Jonas Denecke
2018–2018 OpenAlex profile ↗
Reproducibility track record
1
assessed papers
76/100
mean reproducibility
1
reproduced (C1–C2)
0
flagged
0
total citations
flag rate:
0%
(0/1)
The share of this author’s assessed papers carrying a ⚑ flag. A concentration is a prompt for expert review — never, on its own, a determination about the person.
Authorship role
first author: 0
last author: 0
Topics
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Funders
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Frequent co-authors
Markus Schirmer 1Georg Rosenberger 1Jessika Johannsen 1Kristin Bokelmann 1René Santer 1Fanny Kortüm 1
Institutions
Universität Hamburg 1University Medical Center Hamburg-Eppendorf 1Universitätsmedizin Göttingen 1University of Göttingen 1
Geography (author institutions)
DE 1
Co-author network
Collaborators, sized by shared output and coloured by their own reproducibility (green = high, red = low). Click a node to open their card. A pattern is a prompt for review, never a determination.
How this author’s assessed papers reproduced — the outcome of reproduction attempts, not a judgement of the person. Coverage is partial and grows over time.
Assessed papers (1)
Complete publication record (709)
Request a reproduction →1 assessed by us (1 reproduced) · 708 not yet assessed — every PubMed paper on record, linked below.
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Delphi consensus on gene therapy of spinal muscular atrophy with onasemnogene abeparvovec in Germany, Austria and Switzerland – part II – expert based recommendations for surveillance and management of side-effects ↗Journal of Neuromuscular Diseases · 2026 · PMID 42658895not yet assessed
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Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT), a two-arm, randomized, observer-blind, controlled phase IIb national multicentre clinical trial: study protocol ↗Orphanet Journal of Rare Diseases · 2025 · PMID 39762914not yet assessed
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Prevalence of and risk factors for postoperative delirium among children after cardiac surgery in a Single-Centre retrospective study ↗Scientific Reports · 2025 · PMID 40542017not yet assessed
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Maximal mouth opening in infants and toddlers with spinal muscular atrophy: a prospective controlled study ↗Orphanet Journal of Rare Diseases · 2025 · PMID 39815373not yet assessed
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Loss-of-function variant in KCNH3 is associated with global developmental delay, autistic behavior, insomnia, and nocturnal seizures ↗Seizure · 2025 · PMID 40157307not yet assessed
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The Family Stress Model in families of children with rare diseases: a cross-sectional multilevel path analysis for understanding family dynamics ↗Frontiers in Public Health · 2025 · PMID 41341441not yet assessed
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Evaluation of the Health‐Related Quality of Life and Mental Health of Parents With Children and Adolescents With a Rare Disease Based on the Results of a Randomized Controlled Trial to Investigate a Family‐Based Intervention and an Online Intervention for Affected Families ( CARE ‐ FAM ‐ NET ) ↗Family Process · 2025 · PMID 40375458not yet assessed
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Feeding development in healthy infants: A comparative framework for children with Spinal Muscular Atrophy – The DySMAnorm study ↗International Journal of Pediatric Otorhinolaryngology · 2025 · PMID 40203535not yet assessed
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Gender-specific insights on parenting children with rare diseases through multiple mediation analyses within the double ABCX model ↗Research in Developmental Disabilities · 2025 · PMID 41218396not yet assessed
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Wenn die Erkrankung im Gepäck mitreist ↗Monatsschrift Kinderheilkunde · 2025not yet assessed
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Do We Do Genetic Testing Early Enough for Cardiomyopathies? ↗The Thoracic and Cardiovascular Surgeon · 2025not yet assessed
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Prevalence and Predictive Risk Factors of Pediatric Delirium after Cardiac Surgery ↗The Thoracic and Cardiovascular Surgeon · 2025not yet assessed
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Torticollis infolge eines spinalen Epiduralhämatoms – eine seltene Komplikation einer schweren Hämophilie A ↗RöFo - Fortschritte auf dem Gebiet der Röntgenstrahlen und der bildgebenden Verfahren · 2025not yet assessed
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Paediatric Delirium After Cardiac Surgery:Prevalence and Predictive Risk Factor Analysis ↗Research Square · 2025not yet assessed
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Prolonged apnea in a boy with epilepsy and a novel gain-of-function missense CACNA1A variant indicating SUDEP risk ↗Frontiers in Neurology · 2025 · PMID 40703772not yet assessed
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Leukencephalopathy with Calcifications and Cysts: A Case Report of Clinical Improvement with Tiapride ↗Neuropediatrics · 2025not yet assessed
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Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy ↗Archives of Pediatrics and Adolescent Medicine · 2024 · PMID 38587854not yet assessed
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Cognitive function in SMA patients with 2 or 3 SMN2 copies treated with SMN-modifying or gene addition therapy during the first year of life ↗European Journal of Paediatric Neurology · 2024 · PMID 38772209not yet assessed
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Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder ↗Genetics in Medicine · 2024 · PMID 38334070not yet assessed
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Overview of Neuro-Ophthalmic Findings in Leukodystrophies ↗Journal of Clinical Medicine · 2024 · PMID 39274327not yet assessed
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Experiences and the psychosocial situation of parental caregivers of children with spinal muscular atrophy against the background of new treatment options: a qualitative interview study ↗BMC Psychology · 2024 · PMID 39420400not yet assessed
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DySMA – an Instrument to Monitor Swallowing Function in Children with Spinal Muscular Atrophy ages 0 to 24 Months: Development, Consensus, and Pilot Testing ↗Journal of Neuromuscular Diseases · 2024 · PMID 38457144not yet assessed
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Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity ↗The American Journal of Human Genetics · 2024 · PMID 38772379not yet assessed
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Immunoadsorption is equally effective as plasma exchange in paediatric neuroimmunological disorders - A retrospective multicentre study ↗European Journal of Paediatric Neurology · 2024 · PMID 39752845not yet assessed
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Prenatal imaging – role of fetal MRI ↗RöFo - Fortschritte auf dem Gebiet der Röntgenstrahlen und der bildgebenden Verfahren · 2024 · PMID 39642925not yet assessed
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Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder ↗The American Journal of Human Genetics · 2024 · PMID 39106866not yet assessed
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Association between Tubulointerstitial Nephritis and Uveitis Syndrome and Small-Vessel CNS Vasculitis: A Case of Polyautoimmunity ↗Neuropediatrics · 2024 · PMID 38181817not yet assessed
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Der seltene Fall: fusionierte Fornices ↗Ultraschall in der Medizin - European Journal of Ultrasound · 2024not yet assessed
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Fetale Melanozytose des Kleinhirn ↗Ultraschall in der Medizin - European Journal of Ultrasound · 2024not yet assessed
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Rolle der fetalen MRT ↗Ultraschall in der Medizin - European Journal of Ultrasound · 2024not yet assessed
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Prolonged Apnea in a Boy with Epilepsy and a Novel Gain-of-Function Missense Cacna1a Variant Indicating Sudep Risk ↗SSRN Electronic Journal · 2024not yet assessed
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Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration ↗Cell · 2023 · PMID 36931244not yet assessed
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Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes ↗Brain · 2023 · PMID 38038360not yet assessed
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Retrospective Pediatric Cohort Study Validates NEOS Score and Demonstrates Applicability in Children With Anti-NMDAR Encephalitis ↗Neurology Neuroimmunology & Neuroinflammation · 2023 · PMID 36948591not yet assessed
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Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1 ↗Neurology · 2023 · PMID 37407264not yet assessed
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Experiences of Health Care and Psychosocial Needs in Parents of Children with Spinal Muscular Atrophy ↗International Journal of Environmental Research and Public Health · 2023 · PMID 37047974not yet assessed
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High-sensitive cardiac troponin I (hs-cTnI) concentrations in newborns diagnosed with spinal muscular atrophy ↗Frontiers in Pediatrics · 2023 · PMID 38034835not yet assessed
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An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP ↗The American Journal of Human Genetics · 2023 · PMID 37883978not yet assessed
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CNS Manifestations in Mucolipidosis Type II—A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients ↗Journal of Clinical Medicine · 2023 · PMID 37373807not yet assessed
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INPP4A-related genetic and phenotypic spectrum and functional relevance of subcellular targeting of INPP4A isoforms ↗Neurogenetics · 2023 · PMID 36653678not yet assessed
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A Novel Autosomal Dominant Childhood-Onset Disorder Associated with Pathogenic Variants in VCP ↗medRxiv · 2023not yet assessed
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INPP4A-Related Genetic and Phenotypic Spectrum and Functional Relevance of Subcellular Targeting of INPP4A Isoforms ↗Neuropediatrics · 2023not yet assessed
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Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy ↗Brain · 2022 · PMID 35857854not yet assessed
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Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study ↗Orphanet Journal of Rare Diseases · 2022 · PMID 36274155not yet assessed
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Flexible endoscopic evaluation of swallowing in children with type 1 spinal muscular atrophy ↗European Archives of Oto-Rhino-Laryngology · 2022 · PMID 36209319not yet assessed
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Health-Related Quality of Life and mental health of families with children and adolescents affected by rare diseases and high disease burden: the perspective of affected children and their siblings ↗BMC Pediatrics · 2022 · PMID 36229869not yet assessed
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Brain Abnormalities in Patients with Germline Variants inH3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors ↗American Journal of Neuroradiology · 2022 · PMID 35772801not yet assessed
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Psychosoziale Versorgung für Kinder mit seltenen Erkrankungen und ihren Eltern und Geschwistern im Verbund CARE-FAM-NET ↗Monatsschrift Kinderheilkunde · 2022not yet assessed
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Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature ↗The American Journal of Human Genetics · 2021 · PMID 33909990not yet assessed
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CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders ↗Brain · 2021 · PMID 33704440not yet assessed
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Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis ↗Neonatology · 2021 · PMID 34237744not yet assessed
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Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism ↗The American Journal of Human Genetics · 2021 · PMID 33909992not yet assessed
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The natural history of Canavan disease: 23 new cases and comparison with patients from literature ↗Orphanet Journal of Rare Diseases · 2021 · PMID 34011350not yet assessed
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Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders ↗Genome Medicine · 2021 · PMID 34020708not yet assessed
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MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency ↗European Journal of Human Genetics · 2021 · PMID 33654309not yet assessed
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ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants ↗Neurogenetics · 2021 · PMID 34218362not yet assessed
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Evaluation of putative CSF biomarkers in paediatric spinal muscular atrophy (SMA) patients before and during treatment with nusinersen ↗Journal of Cellular and Molecular Medicine · 2021 · PMID 34312963not yet assessed
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Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males ↗Human Genetics · 2021 · PMID 34907471not yet assessed
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Development of the “Hamburg Best Practice Guidelines for ICV−Enzyme Replacement therapy (ERT) in CLN2 Disease” Based on 6 Years Treatment Experience in 48 Patients ↗Journal of Child Neurology · 2021 · PMID 33543660not yet assessed
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Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort ↗Clinical Genetics · 2021 · PMID 34490615not yet assessed
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Dominant KPNA3 Mutations Cause Infantile‐Onset Hereditary Spastic Paraplegia ↗Annals of Neurology · 2021 · PMID 34564892not yet assessed
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Is hematopoietic stem cell transplantation a therapeutic option for mucolipidosis type II? ↗Molecular Genetics and Metabolism Reports · 2021 · PMID 33505859not yet assessed
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Heterozygous ANKRD17 loss of function variants cause a syndrome with intellectual disability, speech delay and dysmorphism ↗Molecular Genetics and Metabolism · 2021not yet assessed
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Real-World Data for Onasemnogen Abeparvovec (Zolgensma) in Spinal Muscular Atrophy ↗Neuropediatrics · 2021not yet assessed
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Hypoglykämie+Septum pellucidum-Agenesie = septo-optische Dysplasie! ↗Zeitschrift für Geburtshilfe und Neonatologie · 2021 · PMID 34619788not yet assessed
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Griscelli Syndrome Type 1: When the Hair Becomes Gray in Children ↗Neuropediatrics · 2021not yet assessed
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Levetiracetam as a Therapeutic Option in the Treatment of MR1-Associated Paroxysmal Nonkinesigenic Dyskinesias in Children: A Case Report ↗Neuropediatrics · 2021not yet assessed
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Development of the “Hamburg Best Practice Guidelines for ICV−Enzyme Replacement Therapy (ERT) in CLN2 Disease” Based on 6 Years of Treatment Experience in 48 Patients ↗Neuropediatrics · 2021not yet assessed
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Additional file 2 of Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders ↗UWA Profiles and Research Repository (UWA) · 2021not yet assessed
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Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function ↗Human Mutation · 2020 · PMID 31898846not yet assessed
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Germline AGO2 mutations impair RNA interference and human neurological development ↗Nature Communications · 2020 · PMID 33199684not yet assessed
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Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients ↗Science Advances · 2020 · PMID 33268356not yet assessed
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Quality of Life and Mental Health in Mothers and Fathers Caring for Children and Adolescents with Rare Diseases Requiring Long-Term Mechanical Ventilation ↗International Journal of Environmental Research and Public Health · 2020 · PMID 33276595not yet assessed
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A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome ↗European Journal of Human Genetics · 2020 · PMID 32483341not yet assessed
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A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl−/H+-Exchanger, Causes Early-Onset Neurodegeneration ↗The American Journal of Human Genetics · 2020 · PMID 33217309not yet assessed
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Evaluation of two family-based intervention programs for children affected by rare disease and their families – research network (CARE-FAM-NET): study protocol for a rater-blinded, randomized, controlled, multicenter trial in a 2x2 factorial design ↗BMC Family Practice · 2020 · PMID 33218310not yet assessed
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Nine newly identified individuals refine the phenotype associated with MYT1L mutations ↗American Journal of Medical Genetics Part A · 2020 · PMID 32065501not yet assessed
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The impact of long-term ventilator-use on health-related quality of life and the mental health of children with neuromuscular diseases and their families: need for a revised perspective? ↗Health and Quality of Life Outcomes · 2020 · PMID 32646436not yet assessed
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Intrathecal Administration of Nusinersen in Pediatric SMA Patients with and without Spine Deformities: Experiences and Challenges over 3 Years in a Single Center ↗Neuropediatrics · 2020 · PMID 33276405not yet assessed
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The Clinical Picture of a Bilateral Perisylvian Syndrome as the Initial Symptom of Mega-Corpus-Callosum Syndrome due to a MAST1-Gene Mutation ↗Neuropediatrics · 2020 · PMID 32818970not yet assessed
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Two CaV3.3 (CACNA1I) Gain-of-Function Mutations Linked to Epilepsy and Intellectual Disability Affect Gating Properties and the Window Current ↗Biophysical Journal · 2020not yet assessed
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Genotype–phenotype correlations and novel molecular insights into the DHX30 -associated neurodevelopmental disorders ↗medRxiv · 2020not yet assessed
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Location, location, location: protein truncating variants in different loci of SRCAP cause three distinct neurodevelopmental disorders, associated with distinctive DNA methylation signaturesUniversity of Southern Denmark Research Portal (University of Southern Denmark) · 2020not yet assessed
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Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus–Merzbacher disease ↗Acta Neuropathologica · 2019 · PMID 30919030not yet assessed
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MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis ↗Brain · 2019 · PMID 31834374not yet assessed
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Exome Sequencing in Children ↗Deutsches Ärzteblatt international · 2019 · PMID 31056085not yet assessed
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Novel variants and clinical symptoms in four new ALG3‐CDG patients, review of the literature, and identification of AAGRP‐ALG3 as a novel ALG3 variant with alanine and glycine‐rich N‐terminus ↗Human Mutation · 2019 · PMID 31067009not yet assessed
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Defining and expanding the phenotype of QARS -associated developmental epileptic encephalopathy ↗Neurology Genetics · 2019 · PMID 32042906not yet assessed
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Excessive Seizure Clusters in an Otherwise Well-Controlled Epilepsy as a Possible Hallmark of Untreated Vitamin B6-Responsive Epilepsy due to a Homozygous PLPBP Missense Variant ↗Journal of Pediatric Genetics · 2019 · PMID 31687261not yet assessed
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Correction to: Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus–Merzbacher disease ↗Acta Neuropathologica · 2019 · PMID 31482207not yet assessed
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MAST1-Gene Variations: A New Monogenetic Neuronal Migration Disorder Causing Congenital Bilateral Perisylvian Syndrome (CBPS) ↗Neuropediatrics · 2019not yet assessed
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Late Diagnosis of Pyridoxine-dependent Epilepsy due to a PROSC-mutation with Whole-exome-Sequencing and Natural History without Administration of Pyridoxine until Adolescence ↗Neuropediatrics · 2019not yet assessed
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EEG Scoring in Degenerative Brain Diseases of Childhood: The Pediatric Neurodegeneration EEG Scoring (PNES) ↗Neuropediatrics · 2019not yet assessed
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Clinical Spectrum in DNM1 Mutation Beyond Epileptic Encephalopathy Type 31 ↗Neuropediatrics · 2019not yet assessed
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Management of Giant Carotid Aneurysm with Occlusion of the Carotid Artery - Case Report and Discussion of Treatment Strategies ↗Neuropediatrics · 2019not yet assessed
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Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany ↗Journal of Neuromuscular Diseases · 2018 · PMID 29689734not yet assessed
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BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells ↗Brain · 2018 · PMID 29985992not yet assessed
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Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder ↗The American Journal of Human Genetics · 2018 · PMID 30290153not yet assessed
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A recurrent de-novo ANO3 mutation causes early-onset generalized dystonia ↗Journal of the Neurological Sciences · 2018 · PMID 30502610not yet assessed
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A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delayNeurogenetics · 2018 · PMID 29808465L1 76/100
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De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder ↗The American Journal of Human Genetics · 2018not yet assessed
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P 1147. Pyridostigmine Leads to Relevant Improvement of Motor Function in an Infant with RYR1-Related Congenital Myopathy ↗Neuropediatrics · 2018not yet assessed
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P 960. Intrathecal Administration of Nusinersen in Patients with SMA: Experience and Challenges—A Single-Center Report ↗Neuropediatrics · 2018not yet assessed
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Lessons learned from additional research analyses of unsolved clinical exome cases ↗Genome Medicine · 2017 · PMID 28327206not yet assessed
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Management Strategies for CLN2 Disease ↗Pediatric Neurology · 2017 · PMID 28335910not yet assessed
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De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder ↗The American Journal of Human Genetics · 2017 · PMID 29100085not yet assessed
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Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy ↗Brain · 2017 · PMID 29050398not yet assessed
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Severe bone loss and multiple fractures in SCN8A-related epileptic encephalopathy ↗Bone · 2017 · PMID 28676440not yet assessed
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Psychosozialer Unterstützungsbedarf von Eltern mit schwer chronisch somatisch erkrankten Kindern ↗Praxis der Kinderpsychologie und Kinderpsychiatrie · 2017 · PMID 29111898not yet assessed
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First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features ↗European Journal of Medical Genetics · 2017 · PMID 28687526not yet assessed
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Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1 ↗American Journal of Medical Genetics Part A · 2017 · PMID 28884921not yet assessed
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A Novel Nonsense Mutation in TRIP4 Gene Causes Severe Muscular Weakness with Respiratory Failure and Cardiomyopathy but without Skin, Joint, and/or Bone Abnormalities ↗Neuropediatrics · 2017not yet assessed
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Compassionate Use of Simvastatin for a Patient with Juvenile Metachromatic Leukodystrophy ↗Neuropediatrics · 2017not yet assessed
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The Potential of Whole-Exome Sequencing (WES) in Neuropediatric Patients: Single-Center Experience at the University Hospital Hamburg Eppendorf ↗Neuropediatrics · 2017not yet assessed
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The Natural History of Canavan Disease: Description of 23 New Cases and Comparison with Literature ↗Neuropediatrics · 2017not yet assessed
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Survival Beyond the Perinatal Period Expands the Phenotypes Caused by Mutations in GLE1 ↗bioRxiv (Cold Spring Harbor Laboratory) · 2017not yet assessed
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Additional file 3: Table S2. of Lessons learned from additional research analyses of unsolved clinical exome cases ↗Figshare · 2017not yet assessed
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Additional file 5: Table S3. of Lessons learned from additional research analyses of unsolved clinical exome cases ↗Figshare · 2017not yet assessed
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Additional file 6: Table S4. of Lessons learned from additional research analyses of unsolved clinical exome cases ↗Figshare · 2017not yet assessed
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Additional file 1: Table S1. of Lessons learned from additional research analyses of unsolved clinical exome cases ↗Figshare · 2017not yet assessed
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Considering Valproate as a Risk Factor for Rapid Exacerbation of Complex Movement Disorder in Progressed Stages of Late-Infantile CLN2 Disease ↗Neuropediatrics · 2016 · PMID 27043294not yet assessed
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Exome sequencing is a valuable approach in critically ill patients with suspected monogenic disease: Diagnosis of X-linked centronuclear myopathy in preterm twins ↗Pediatrics & Neonatology · 2016 · PMID 27989427not yet assessed
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Expert opinion on the management of CLN2 disease ↗Molecular Genetics and Metabolism · 2016not yet assessed
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De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment ↗The American Journal of Human Genetics · 2015 · PMID 26340335not yet assessed
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Phenotypic and molecular insights into CASK-related disorders in males ↗Orphanet Journal of Rare Diseases · 2015 · PMID 25886057not yet assessed
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Brainstem Disconnection: Two Additional Patients and Expansion of the Phenotype ↗Neuropediatrics · 2015 · PMID 25671339not yet assessed
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Epilepsy in neuronal ceroid lipofuscinoses ↗Journal of Pediatric Epilepsy · 2015not yet assessed
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ASAH1 Mutation in a Boy with Non-5q SMA and Progressive Myoclonic Epilepsy ↗Neuropediatrics · 2015not yet assessed
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Lebensqualität von chronisch erkrankten Kindern und ihren Familien2015not yet assessed
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Lebensqualität von langzeitbeatmeten Kindern und ihren Familien ↗German Medical Science (German Research Foundation) · 2015not yet assessed
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Testing for Hyperhomocysteinemia in Subjects with a History of Thromboembolic Events Using HPLC Technique ↗Methods in molecular biology · 2013 · PMID 23546731not yet assessed
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A Novel Type of Macrothrombocytopenia Associated with a Defect in α2,3-Sialylation ↗American Journal Of Pathology · 2011 · PMID 21864493not yet assessed
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Kleine-Levin syndrome: a disorder with recurring hypersomnia as main symptom ↗Neuropediatrics · 2011not yet assessed
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A new glycosylation deficiency syndromeRadboud Repository (Radboud University) · 2011not yet assessed
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Erratum: Corrigendum: Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization ↗Nature Genetics · 2011not yet assessed
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Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization ↗Nature Genetics · 2010 · PMID 20190753not yet assessed
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Mapping candidate regions and genes for congenital anomalies of the kidneys and urinary tract (CAKUT) by array-based comparative genomic hybridization ↗Nephrology Dialysis Transplantation · 2010 · PMID 20605837not yet assessed
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Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II ↗Nature Genetics · 2009 · PMID 19561605not yet assessed
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Hypoglycosylation due to dolichol metabolism defects ↗Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2009 · PMID 19419701not yet assessed
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Novel ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih ↗Molecular Genetics and Metabolism · 2009 · PMID 19648040not yet assessed
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Biomarkers and diagnosis of congenital disorders of glycosylation ↗Expert Opinion on Medical Diagnostics · 2009 · PMID 23485208not yet assessed
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Human Transmissible Spongiform Encephalopathies ↗2009 · PMID 9844549not yet assessed
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Hypermagnesemia ↗2009not yet assessed
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Graft Versus Host Reaction ↗2009 · PMID 4086042not yet assessed
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Hepatomegaly ↗2009not yet assessed
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Hyperprolinemia ↗2009not yet assessed
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Hepatitis ↗2009not yet assessed
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HCM ↗2009not yet assessed
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Hair Loss ↗2009not yet assessed
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HIH ↗2009not yet assessed
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Herpes Stomatitis ↗2009not yet assessed
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Hyper-IgM Syndrome ↗2009not yet assessed
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HTGL ↗2009not yet assessed
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Gallstones ↗2009not yet assessed
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Gastritis ↗2009not yet assessed
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Hyperbradykininism ↗2009not yet assessed
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Hypovolemic Shock ↗2009not yet assessed
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Hepatic Steatosis ↗2009not yet assessed
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GEMSS Syndrome ↗2009not yet assessed
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Hepatoma ↗2009not yet assessed
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HMBS Deficiency ↗2009not yet assessed
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GSD-III ↗2009not yet assessed
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Glutaric Acidemia ↗2009not yet assessed
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not yet assessed
-
Herpes Gestationis ↗2009not yet assessed
-
Genetic Deafness ↗2009not yet assessed
-
not yet assessed
-
HAPO ↗2009not yet assessed
-
Hemophilia A ↗2009not yet assessed
-
HFI ↗2009not yet assessed
-
not yet assessed
-
HLRCC ↗2009not yet assessed
-
Hyperornithinemia ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
Hypophosphatemia ↗2009not yet assessed
-
not yet assessed
-
GCDII ↗2009not yet assessed
-
Gynecomastia ↗2009not yet assessed
-
Hyperuricaciduria ↗2009not yet assessed
-
HSAN ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
HOPP Syndrome ↗2009not yet assessed
-
Hypovolemia ↗2009not yet assessed
-
Horton’s Headache ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
Gilbert Syndrome ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
HypoPP ↗2009not yet assessed
-
not yet assessed
-
Hunter Syndrome ↗2009not yet assessed
-
not yet assessed
-
Hyperpyrexia ↗2009not yet assessed
-
Gastroschisis ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
HMSN ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
Globozoospermia ↗2009not yet assessed
-
HOA ↗2009not yet assessed
-
Harderoporphyria ↗2009not yet assessed
-
Germ Cells Aplasia ↗2009not yet assessed
-
not yet assessed
-
Hypertrophic Scars ↗2009not yet assessed
-
Hypothyroidism ↗2009not yet assessed
-
not yet assessed
-
Gallbladder Stones ↗2009not yet assessed
-
not yet assessed
-
Gorlin Syndrome ↗2009not yet assessed
-
Heart Block ↗2009not yet assessed
-
not yet assessed
-
Hypercorticism ↗2009not yet assessed
-
not yet assessed
-
Globus Pharyngitis ↗2009not yet assessed
-
HPA ↗2009not yet assessed
-
not yet assessed
-
Hemophilia C ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
Hemangiosarcoma ↗2009not yet assessed
-
Hypophosphatasia ↗2009not yet assessed
-
HEXA Deficiency ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
HAPE ↗2009not yet assessed
-
not yet assessed
-
GERD ↗2009not yet assessed
-
Hyperuricosuria ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
HPV ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
Hyperopia ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
Heart Hypertrophy ↗2009not yet assessed
-
not yet assessed
-
Hepatitis, Acute ↗2009not yet assessed
-
not yet assessed
-
Gouty Diathesis ↗2009not yet assessed
-
HSP ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
Hyperprolactinemia ↗2009not yet assessed
-
Gut Ischemia ↗2009not yet assessed
-
not yet assessed
-
Hartnup Disorder ↗2009not yet assessed
-
HNPCC ↗2009not yet assessed
-
Hodgkin’s Disease ↗2009not yet assessed
-
not yet assessed
-
HLTS ↗2009not yet assessed
-
not yet assessed
-
Hyperventilation ↗2009not yet assessed
-
Hepatitis, Chronic ↗2009not yet assessed
-
Graves' Disease ↗2009not yet assessed
-
not yet assessed
-
Hypocitraturia ↗2009not yet assessed
-
HNPP ↗2009not yet assessed
-
Heat Stroke ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
Hemangioblastoma ↗2009not yet assessed
-
Globus Sensation ↗2009not yet assessed
-
not yet assessed
-
Holt-Oram Syndrome ↗2009not yet assessed
-
HPP ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
GCDIII ↗2009not yet assessed
-
High Triglycerides ↗2009not yet assessed
-
not yet assessed
-
HSAS ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
Generalized (Genetic) Epilepsy with Febrile Seizures Plus, Severe Myoclonic Epilepsy of Infancy ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
GDM ↗2009not yet assessed
-
Galactosialidosis ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
Gliomas ↗2009not yet assessed
-
Hereditary Congenital Spinocerebellar Ataxia Accompanied by Congenital Cataract and Oligophrenia ↗2009not yet assessed
-
Glucagonom ↗2009not yet assessed
-
not yet assessed
-
Gigantism ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
Hot Nodule ↗2009not yet assessed
-
HRSV ↗2009not yet assessed
-
Hypervitaminosis E ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
Glioma Retinae ↗2009not yet assessed
-
Gingivostomatitis ↗2009not yet assessed
-
Hodgkin Lymphoma ↗2009not yet assessed
-
not yet assessed
-
HUS ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
Histiocytosis X ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
Haim-Munk Syndrome ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
Hyper IgE Syndrome ↗2009not yet assessed
-
Hypoosmolality ↗2009not yet assessed
-
HIE ↗2009not yet assessed
-
Gordon's Syndrome ↗2009not yet assessed
-
GJH ↗2009not yet assessed
-
Hypermetropia ↗2009not yet assessed
-
not yet assessed
-
Hives ↗2009not yet assessed
-
δ-Granule Defects ↗2009not yet assessed
-
Gastro-Enteritis ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
Hypothermia ↗2009not yet assessed
-
not yet assessed
-
HLHS ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
GCG ↗2009not yet assessed
-
Hemolytic Anemia ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
HSH ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
Gilbert’s Syndrome ↗2009not yet assessed
-
not yet assessed
-
Hemorrhagic Shock ↗2009not yet assessed
-
Hematemesis ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
HED-ID ↗2009not yet assessed
-
HOS ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
Gitelman Syndrome ↗2009not yet assessed
-
not yet assessed
-
Hawkinsinuria ↗2009not yet assessed
-
Gastric Ulcer ↗2009not yet assessed
-
not yet assessed
-
HCC ↗2009not yet assessed
-
not yet assessed
-
Goiter ↗2009not yet assessed
-
Heck’s Disease ↗2009not yet assessed
-
not yet assessed
-
Genetic Emphysema ↗2009not yet assessed
-
GSD-VII ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
GSD-Ib ↗2009not yet assessed
-
GEFS+ ↗2009not yet assessed
-
HHT1 ↗2009not yet assessed
-
Hypersulfaturia ↗2009not yet assessed
-
not yet assessed
-
Hypomagnesemia ↗2009not yet assessed
-
Hurler Syndrome ↗2009not yet assessed
-
HKS ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
GVHD ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
HCD ↗2009not yet assessed
-
Hypoaldosteronism ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
HPD Deficiency ↗2009not yet assessed
-
Gardner’s Syndrome ↗2009not yet assessed
-
not yet assessed
-
Globus Pharyngeus ↗2009not yet assessed
-
GSD-I ↗2009not yet assessed
-
not yet assessed
-
Hypertrophy ↗2009not yet assessed
-
not yet assessed
-
Gastrinoma ↗2009not yet assessed
-
not yet assessed
-
Hypocalcemia ↗2009not yet assessed
-
GSD-Ia ↗2009not yet assessed
-
not yet assessed
-
HMN ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
Human RSV ↗2009not yet assessed
-
not yet assessed
-
Hyponatremia ↗2009not yet assessed
-
Gingivitis ↗2009not yet assessed
-
not yet assessed
-
HHI ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
Hartnup Disease ↗2009not yet assessed
-
Glycogenosis ↗2009not yet assessed
-
Hypopituitarism ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
Hepatic Fibrosis ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
Hemangiopericytoma ↗2009not yet assessed
-
not yet assessed
-
Hypovitaminosis E ↗2009not yet assessed
-
Hyperthermia ↗2009not yet assessed
-
Gaucher Disease ↗2009not yet assessed
-
GAMT ↗2009not yet assessed
-
Gyrate Atrophy ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
GDH-HI ↗2009not yet assessed
-
Hypokalemia ↗2009not yet assessed
-
HYP ↗2009not yet assessed
-
Hibernation ↗2009not yet assessed
-
not yet assessed
-
HCI ↗2009not yet assessed
-
not yet assessed
-
HLP ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
Hypercapnia ↗2009not yet assessed
-
not yet assessed
-
Hypochondrogenesis ↗2009not yet assessed
-
not yet assessed
-
Granulocytosis ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
Hypotonicity ↗2009not yet assessed
-
Histidinuria ↗2009not yet assessed
-
Heart Attack ↗2009not yet assessed
-
not yet assessed
-
Heberden's Nodes ↗2009not yet assessed
-
not yet assessed
-
GCDI ↗2009not yet assessed
-
Gum Disease ↗2009not yet assessed
-
not yet assessed
-
HPD ↗2009not yet assessed
-
not yet assessed
-
Heart Failure ↗2009not yet assessed
-
Hyperbilirubinemia ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
HED ↗2009not yet assessed
-
HIES ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
Hypoxia ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
Hematuria ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
HAE ↗2009not yet assessed
-
HTE ↗2009not yet assessed
-
Glomus Tumors ↗2009not yet assessed
-
Hypoxic Ischemia ↗2009not yet assessed
-
HBOV ↗2009not yet assessed
-
Hyperuricemia ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
Glaucoma ↗2009not yet assessed
-
GSD-II ↗2009not yet assessed
-
not yet assessed
-
Hypercalcemia ↗2009not yet assessed
-
Hyperkalemia ↗2009not yet assessed
-
not yet assessed
-
Hirsutism ↗2009not yet assessed
-
GS Deficiency ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
Granuloma Annulare ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
Hypercortisolism ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
GLD ↗2009not yet assessed
-
not yet assessed
-
Globus Hystericus ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
Hypoglycemia ↗2009not yet assessed
-
HPS ↗2009not yet assessed
-
Happle Syndrome ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
Hemothorax ↗2009not yet assessed
-
Hypersplenism ↗2009not yet assessed
-
Hyperlipidemia ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
Gout ↗2009not yet assessed
-
GDLD ↗2009not yet assessed
-
not yet assessed
-
Hyperammonemia ↗2009not yet assessed
-
not yet assessed
-
Hyperuricuria ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
Hypercalciuria ↗2009not yet assessed
-
not yet assessed
-
Hypospadias ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
Hypoplast ↗2009not yet assessed
-
Goldberg Syndrome ↗2009not yet assessed
-
not yet assessed
-
Hiatus Hernia ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
HCPS ↗2009not yet assessed
-
Hydrocele ↗2009not yet assessed
-
Hypersomnia ↗2009not yet assessed
-
not yet assessed
-
Human Bocavirus ↗2009not yet assessed
-
Hypervalinemia ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
HCHWA ↗2009not yet assessed
-
GSD-0 ↗2009not yet assessed
-
not yet assessed
-
Hemophilia B ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
Galactorrhea ↗2009not yet assessed
-
Hemorrhoids ↗2009not yet assessed
-
not yet assessed
-
Congenital dyserythropoietic anemia type II (CDAII/HEMPAS): Where are we now? ↗Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2008 · PMID 19150496not yet assessed
-
A Defect in Dolichol Phosphate Biosynthesis Causes a New Inherited Disorder with Death in Early Infancy ↗The American Journal of Human Genetics · 2007 · PMID 17273964not yet assessed
-
Characterization of the N-glycosylation phenotype of erythrocyte membrane proteins in congenital dyserythropoietic anemia type II (CDA II/HEMPAS) ↗Glycoconjugate Journal · 2007 · PMID 18166993not yet assessed
-
Clinical and molecular genetic features of ARC syndrome ↗Human Genetics · 2006 · PMID 16896922not yet assessed
-
A homozygousZMPSTE24null mutation in combination with a heterozygous mutation in theLMNAgene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS ↗Human Mutation · 2006 · PMID 16671095not yet assessed
-
Leukocyte adhesion deficiency II patients with a dual defect of the GDP-fucose transporter ↗Blood · 2006 · PMID 16455955not yet assessed
-
Congenital Disorder of Glycosylation Type Id: Clinical Phenotype, Molecular Analysis, Prenatal Diagnosis, and Glycosylation of Fetal Proteins ↗Pediatric Research · 2005 · PMID 16006436not yet assessed
-
Glycoproteomics of N ‐glycosylation by in‐gel deglycosylation and matrix‐assisted laser desorption/ionisation‐time of flight mass spectrometry mapping: Application to congenital disorders of glycosylation ↗PROTEOMICS · 2005 · PMID 15912511not yet assessed
-
Congenital disorders of glycosylation – a second patient of CDG type Id deficiency: different clinical phenotype, molecular analysis and prenatal diagnosis ↗Neuropediatrics · 2005not yet assessed
-
Congenital Disorder of Glycosylation Type Ik (CDG-Ik): A Defect of Mannosyltransferase I ↗The American Journal of Human Genetics · 2004 · PMID 14973782not yet assessed
-
p.S143F mutation in lamin A/C: A new phenotype combining myopathy and progeria ↗Annals of Neurology · 2004 · PMID 15622532not yet assessed
-
An activated 5? cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id) ↗Human Mutation · 2004 · PMID 15108280not yet assessed
-
Progeria: a new kind of Laminopathy-- report of the First European Symposium on Progeria and creation of EURO-Progeria, a European Consortium on Progeria and related disorders. ↗PubMed · 2004 · PMID 16429102not yet assessed
-
Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies ↗European Journal of Pediatrics · 2003 · PMID 12756558not yet assessed
-
Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation ↗Blood · 2003 · PMID 12933587not yet assessed
-
Diagnosis of N‐acetylglutamate synthase deficiency by use of cultured fibroblasts and avoidance of nonsense‐mediated mRNA decay ↗Journal of Inherited Metabolic Disease · 2003 · PMID 14605506not yet assessed
-
Decreased expression of gamma-glutamyl transpeptidase at the bile canaliculus in arthrogryposis - Renal dysfunction - Cholestasis syndromeUCL Discovery (University College London) · 2003not yet assessed
-
Individual blood–brain barrier phenylalanine transport in siblings with classical phenylketonuria ↗Journal of Inherited Metabolic Disease · 2002 · PMID 12555936not yet assessed
-
Phenylketonuria: No Specific Frontal Lobe-Dependent Neuropsychological Deficits of Early-Treated Patients in Comparison with Diabetics ↗Pediatric Research · 2002 · PMID 12032274not yet assessed
-
A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If) ↗Journal of Clinical Investigation · 2001 · PMID 11733556not yet assessed
-
Normal Clinical Outcome in Untreated Subjects with Mild Hyperphenylalaninemia ↗Pediatric Research · 2001 · PMID 11264437not yet assessed
-
Individual blood–brain barrier phenylalanine transport determines clinical outcome in phenylketonuria ↗Annals of Neurology · 2001 · PMID 11601498not yet assessed
-
A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If) ↗Journal of Clinical Investigation · 2001not yet assessed
-
Behavioural and emotional problems in early‐treated adolescents with phenylketonuria in comparison with diabetic patients and healthy controls ↗Journal of Inherited Metabolic Disease · 2000 · PMID 10947203not yet assessed
-
Arthrogryposis, renale tubuläre Dysfunktion, Cholestase (ARC)-Syndrom: Fallbeschreibung und Literaturübersicht ↗Klinische Pädiatrie · 2000 · PMID 10812557not yet assessed
-
Regression of neuropsychological deficits in early‐treated phenylketonurics during adolescence ↗Journal of Inherited Metabolic Disease · 1999 · PMID 10472530not yet assessed
-
Falsification of tetrazolium dye (MTT) based cytotoxicity assay results due to mycoplasma contamination of cell cultures. ↗PubMed · 1999 · PMID 10368683not yet assessed
-
Multiple drug-resistant C6 glioma cells cross-resistant to irradiation. ↗PubMed · 1998 · PMID 9494563not yet assessed
-
Dexamethasone induces partial resistance to cisplatinum in C6 glioma cells. ↗PubMed · 1996 · PMID 8687132not yet assessed
Full bibliography from OpenAlex; reproducibility verdicts matched by PMID.
Author attribution follows OpenAlex disambiguation, which is imperfect — a researcher's papers can be split across profiles or mixed with a namesake.
No ORCID on record to anchor it (≈⅓ of researchers have none), so this rests on name disambiguation alone. See every “Denecke J” paper on PubMed ↗