Ute Moog

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.

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)

• Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.
  2010 96/100

1 assessed by us (1 reproduced) · 164 not yet assessed — every PubMed paper on record, linked below.

• European training requirements for the specialty of medical genetics ↗

  European Journal of Human Genetics · 2025 · PMID 40604116
  not yet assessed
• The European Certificate in Medical Genetics and Genomics (ECMGG) ↗

  European Journal of Human Genetics · 2025 · PMID 40595428
  not yet assessed
• <b>European Certificate in Medical Genetics and Genomics (ECMGG) und European Training Requirements für das Fach Medizinische Genetik</b> ↗

  Medizinische Genetik · 2023 · PMID 38840865
  not yet assessed
• In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting <i>FOXP2</i> ↗

  Journal of Medical Genetics · 2022 · PMID 36328423
  not yet assessed
• The need for recognition of core professional groups in genetics healthcare services in Europe ↗

  European Journal of Human Genetics · 2022 · PMID 35283482
  not yet assessed
• X-linked variations in <i>SHROOM4</i> are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems ↗

  Journal of Medical Genetics · 2022 · PMID 36379543
  not yet assessed
• Handlungsempfehlungen nach der Leitlinie Klassifikation und Diagnostik der Mikrozephalie ↗

  Monatsschrift Kinderheilkunde · 2022
  not yet assessed
• Über die Notwendigkeit der Anerkennung von sog. Kernberufsgruppen innerhalb der genetischen Gesundheitsversorgung in Europa ↗

  Medizinische Genetik · 2022 · PMID 38836018
  not yet assessed
• Erratum zu: Über die Notwendigkeit der Anerkennung von sog. Kernberufsgruppen innerhalb der genetischen Gesundheitsversorgung in Europa ↗

  Medizinische Genetik · 2022 · PMID 38835907
  not yet assessed
• Indepth characterization of a cohort of individuals with missense and loss-of-function variants disrupting <i>FOXP2</i> ↗

  medRxiv · 2022
  not yet assessed
• Developing an e-learning tool on medical genetics: APOGeE Project (A Practical Online Genetics e-Education)

  HAL (Le Centre pour la Communication Scientifique Directe) · 2022
  not yet assessed
• Germ cell mosaicism for <scp><i>AUTS2</i></scp> exon 6 deletion ↗

  American Journal of Medical Genetics Part A · 2021 · PMID 33577136
  not yet assessed
• POLR3A variants with striatal involvement and extrapyramidal movement disorder ↗

  Neurogenetics · 2020 · PMID 31940116
  not yet assessed
• Disorders Caused by Genetic Mosaicism ↗

  Deutsches Ärzteblatt international · 2020 · PMID 32181732
  not yet assessed
• Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome ↗

  Clinical Epigenetics · 2020 · PMID 32393365
  not yet assessed
• A boy with <scp>Silver</scp>–<scp>Russell</scp> syndrome and Sotos syndrome ↗

  American Journal of Medical Genetics Part A · 2020 · PMID 33191647
  not yet assessed
• Recurrent sebaceous carcinoma on the shoulder ↗

  JDDG Journal der Deutschen Dermatologischen Gesellschaft · 2020 · PMID 31922644
  not yet assessed
• Rezidivierendes Talgdrüsenkarzinom der Schulter ↗

  JDDG Journal der Deutschen Dermatologischen Gesellschaft · 2020 · PMID 32130766
  not yet assessed
• Entwicklungsstörungen und Behinderungen ↗

  Springer Reference Medizin · 2020
  not yet assessed
• Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients ↗

  Genetics in Medicine · 2019 · PMID 31761904
  not yet assessed
• The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1 ↗

  Frontiers in Physiology · 2019 · PMID 30858804
  not yet assessed
• What do parents expect from a genetic diagnosis of their child with intellectual disability? ↗

  Journal of Applied Research in Intellectual Disabilities · 2019 · PMID 30983121
  not yet assessed
• Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement ↗

  American Journal of Neuroradiology · 2019 · PMID 31048294
  not yet assessed
• Entwicklungsstörungen und Behinderungen ↗

  Springer Reference Medizin · 2019
  not yet assessed
• Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP ↗

  Biological Psychiatry · 2018 · PMID 29724491
  not yet assessed
• A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures ↗

  Cell · 2018 · PMID 29474920
  not yet assessed
• An update on oculocerebrocutaneous (Delleman-Oorthuys) syndrome ↗

  American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2018 · PMID 30580480
  not yet assessed
• Uniparental isodisomy as a cause of recessive Mendelian disease: a diagnostic pitfall with a quick and easy solution in medium/large NGS analyses ↗

  European Journal of Human Genetics · 2018 · PMID 29891879
  not yet assessed
• Introduction to the Special Issue on Next Generation Sequencing: Short General Overview of NGS ↗

  OBM Genetics · 2018
  not yet assessed
• Berufsgruppenspezifisches Risiko für eine Infektion mit Q-Fieber – wie gefährdet sind Hebammen und Ärzte im Kreissaal tatsächlich? ↗

  Geburtshilfe und Frauenheilkunde · 2018
  not yet assessed
• Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders ↗

  Brain · 2017 · PMID 28379373
  not yet assessed
• De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability ↗

  The American Journal of Human Genetics · 2017 · PMID 29100089
  not yet assessed
• Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly ↗

  Brain · 2017 · PMID 28969385
  not yet assessed
• Impact of clinical exomes in neurodevelopmental and neurometabolic disorders ↗

  Molecular Genetics and Metabolism · 2017 · PMID 28688840
  not yet assessed
• <i>DDX3X</i> mutations in two girls with a phenotype overlapping Toriello–Carey syndrome ↗

  American Journal of Medical Genetics Part A · 2017 · PMID 28371085
  not yet assessed
• Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue ↗

  Human Molecular Genetics · 2017 · PMID 28973399
  not yet assessed
• Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye ↗

  American Journal of Medical Genetics Part A · 2017 · PMID 28489334
  not yet assessed
• At first sight or second glance: clinical presentation of mosaic manifestations of autosomal dominant skin disorders – a case series ↗

  Journal of the European Academy of Dermatology and Venereology · 2017 · PMID 28342182
  not yet assessed
• At first sight or second glance

  2017
  not yet assessed
• Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis ↗

  The American Journal of Human Genetics · 2016 · PMID 26942290
  not yet assessed
• <i>FOXP2</i> variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum ↗

  Journal of Medical Genetics · 2016 · PMID 27572252
  not yet assessed
• Exome sequencing reveals a novel <i>CWF19L1</i> mutation associated with intellectual disability and cerebellar atrophy ↗

  American Journal of Medical Genetics Part A · 2016 · PMID 27016154
  not yet assessed
• Neonatal Gardner Fibroma Leads to Detection of Familial Adenomatous Polyposis: Two Case Reports ↗

  European Journal of Pediatric Surgery Reports · 2016 · PMID 28018803
  not yet assessed
• Double germline mutations in APC and BRCA2 in an individual with a pancreatic tumor ↗

  Familial Cancer · 2016 · PMID 27838800
  not yet assessed
• Physical Abnormalities in Metabolic Diseases ↗

  2016
  not yet assessed
• Referral practice for genetic counseling over time including patients' expectation and impact of the Jolie effect a prospective study ↗

  Senologie - Zeitschrift für Mammadiagnostik und -therapie · 2016
  not yet assessed
• Referral practice for genetic counseling and patients' expectation over time – a prospective monocenter study ↗

  Geburtshilfe und Frauenheilkunde · 2016
  not yet assessed
• Transcriptional regulator PRDM12 is essential for human pain perception ↗

  Nature Genetics · 2015 · PMID 26005867
  not yet assessed
• Next-generation sequencing in X-linked intellectual disability ↗

  European Journal of Human Genetics · 2015 · PMID 25649377
  not yet assessed
• A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement ↗

  Journal of Medical Genetics · 2015 · PMID 26502894
  not yet assessed
• Clinical reappraisal of <scp>SHORT</scp> syndrome with <i><scp>PIK3R1</scp></i> mutations: toward recommendation for molecular testing and management ↗

  Clinical Genetics · 2015 · PMID 26497935
  not yet assessed
• Phenotypic and molecular insights into CASK-related disorders in males ↗

  Orphanet Journal of Rare Diseases · 2015 · PMID 25886057
  not yet assessed
• Duplication Xp11.22‐p14 in females: Does X‐inactivation help in assessing their significance? ↗

  American Journal of Medical Genetics Part A · 2015 · PMID 25691408
  not yet assessed
• Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline ↗

  Molecular and Cellular Probes · 2015 · PMID 26050939
  not yet assessed
• SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract ↗

  European Journal of Human Genetics · 2015 · PMID 25804400
  not yet assessed
• Erratum: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception ↗

  Nature Genetics · 2015 · PMID 26220135
  not yet assessed
• Entwicklungsstörungen und Behinderungen ↗

  Pädiatrie · 2015
  not yet assessed
• 3p25.3 microdeletion of GABA transporters <i>SLC6A1</i> and <i>SLC6A11</i> results in intellectual disability, epilepsy and stereotypic behavior ↗

  American Journal of Medical Genetics Part A · 2014 · PMID 25256099
  not yet assessed
• Mosaic deletion of <i>EXOC6B</i>: Further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability ↗

  American Journal of Medical Genetics Part A · 2014 · PMID 25256811
  not yet assessed
• Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome ↗

  Orphanet Journal of Rare Diseases · 2014 · PMID 24735900
  not yet assessed
• Sequencing of a Patient with Balanced Chromosome Abnormalities and Neurodevelopmental Disease Identifies Disruption of Multiple High Risk Loci by Structural Variation ↗

  PLoS ONE · 2014 · PMID 24625750
  not yet assessed
• Characterization of the first intragenic SATB2 duplication in a girl with intellectual disability, nearly absent speech and suspected hypodontia ↗

  European Journal of Human Genetics · 2014 · PMID 25118029
  not yet assessed
• Oculoectodermal syndrome: Report of a new case with a broad clinical spectrum ↗

  American Journal of Medical Genetics Part A · 2014 · PMID 25251940
  not yet assessed
• Genome-wide UPD screening in patients with intellectual disability ↗

  European Journal of Human Genetics · 2014 · PMID 24801762
  not yet assessed
• Medizinische Genetik für die Praxis ↗

  2014
  not yet assessed
• Entwicklungsstörungen und Behinderungen ↗

  Pädiatrie · 2014
  not yet assessed
• <i><scp>PIK3R1</scp></i> mutations in <scp>SHORT</scp> syndrome ↗

  Clinical Genetics · 2013 · PMID 23980586
  not yet assessed
• Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene ↗

  Behavioral and Brain Functions · 2013 · PMID 23718928
  not yet assessed
• The phenotypic spectrum of duplication 5q35.2–q35.3 encompassing <i>NSD1</i>: Is it really a reversed sotos syndrome? ↗

  American Journal of Medical Genetics Part A · 2013 · PMID 23913520
  not yet assessed
• Deletion of <i>MAP2K2/MEK2</i>: a novel mechanism for a RASopathy? ↗

  Clinical Genetics · 2013 · PMID 23379592
  not yet assessed
• Craniofrontonasal syndrome in a male due to chromosomal mosaicism involving <i><scp>EFNB1</scp></i>: further insights into a genetic paradox ↗

  Clinical Genetics · 2013 · PMID 23614707
  not yet assessed
• CASK-Related Disorders

  2013
  not yet assessed
• Figure 1. [MRI of the brain of...].

  2013
  not yet assessed
• [Table, GeneReview Scope].

  2013
  not yet assessed
• Table 2. [CASK Transcripts and Isoforms].

  2013
  not yet assessed
• Table 1. [Molecular Genetic Testing Used in CASK-Related Disorders].

  2013
  not yet assessed
• Table 3. [Selected CASK Pathogenic Variants Discussed in This GeneReview].

  2013
  not yet assessed
• Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study ↗

  The Lancet · 2012 · PMID 23020937
  not yet assessed
• 5q31 Microdeletions: Definition of a Critical Region and Analysis of &lt;b&gt;&lt;i&gt;LRRTM2,&lt;/i&gt;&lt;/b&gt; a Candidate Gene for Intellectual Disability ↗

  Molecular Syndromology · 2012 · PMID 23326251
  not yet assessed
• Molecular Karyotyping as a Relevant Diagnostic Tool in Children with Growth Retardation with Silver-Russell Features ↗

  The Journal of Pediatrics · 2012 · PMID 22683032
  not yet assessed
• A 15q24 microdeletion in transient myeloproliferative disease (<scp>TMD</scp>) and acute megakaryoblastic leukaemia (<scp>AMKL</scp>) implicates <scp>PML</scp> and <scp>SUMO</scp>3 in the leukaemogenesis of <scp>TMD</scp>/<scp>AMKL</scp> ↗

  British Journal of Haematology · 2012 · PMID 22296450
  not yet assessed
• Aspartylglucosaminuria ↗

  Journal of Child Neurology · 2012 · PMID 23271757
  not yet assessed
• Hepatoblastoma in two siblings and familial adenomatous polyposis: causal nexus or coincidence? ↗

  Familial Cancer · 2012 · PMID 22692730
  not yet assessed
• A small terminal deletion 11q in a boy without Jacobsen syndrome: Narrowing the critical region for the 11q Jacobsen syndrome phenotype ↗

  American Journal of Medical Genetics Part A · 2012 · PMID 22302716
  not yet assessed
• Humangenetische Diagnostik und Beratung ↗

  Der Gynäkologe · 2012
  not yet assessed
• How fingers and face can be the clue? ↗

  European Journal of Neurology · 2012 · PMID 22329858
  not yet assessed
• Encephalocraniocutaneous lipomatosis (ECCL) - a case report ↗

  Neuropediatrics · 2012
  not yet assessed
• Hepatoblastoma in two siblings and familial adenomatous polyposis

  2012
  not yet assessed
• Phenotypic spectrum associated with <i>CASK</i> loss-of-function mutations ↗

  Journal of Medical Genetics · 2011 · PMID 21954287
  not yet assessed
• Silver–Russell syndrome due to maternal uniparental disomy 7 and a familial reciprocal translocation t(7;13) ↗

  Clinical Genetics · 2011 · PMID 21954990
  not yet assessed
• Rett syndrome: A study of the face ↗

  American Journal of Medical Genetics Part A · 2011 · PMID 21626673
  not yet assessed
• Cohen syndrome – an important differenzial diagnosis for children with mental retardation and secondary microcephaly ↗

  Neuropediatrics · 2011
  not yet assessed
• Syndactyly, tremor, and hypomyelination associated with oculodentodigital dysplasia ↗

  Neuropediatrics · 2011
  not yet assessed
• Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation ↗

  Nature Genetics · 2010 · PMID 20473310
  not yet assessed
• Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

  Nature Genetics · 2010 · PMID 20890276
  96/100
• Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits ↗

  Human Mutation · 2010 · PMID 20848658
  not yet assessed
• Homozygous loss of <i>CHRNA7</i> on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia ↗

  American Journal of Medical Genetics Part A · 2010 · PMID 20979196
  not yet assessed
• Intragenic deletions of <i>IL1RAPL1</i>: Report of two cases and review of the literature ↗

  American Journal of Medical Genetics Part A · 2010 · PMID 21271657
  not yet assessed
• Pseudoautosomal inheritance of Léri-Weill syndrome: what does it mean? ↗

  Clinical Genetics · 2010 · PMID 20681991
  not yet assessed
• Warty skin changes, chronic scrotal lymphoedema, and facial dysmorphism ↗

  BMJ Case Reports · 2010 · PMID 22750922
  not yet assessed
• Mechanisms of Speciation in Southeast Asian Ant-Plants of the Genus Macaranga (Euphorbiaceae) ↗

  2010
  not yet assessed
• Alpha-Thalassämie-Retardierungs-Syndrom ↗

  Monatsschrift Kinderheilkunde · 2010
  not yet assessed
• Humangenetische Beratung bei hereditären Tumoren ↗

  Onkopipeline · 2010
  not yet assessed
• Encephalocraniocutaneous lipomatosis ↗

  Journal of Medical Genetics · 2009 · PMID 19574261
  not yet assessed
• A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients ↗

  European Journal of Human Genetics · 2009 · PMID 19471318
  not yet assessed
• Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to <i>ASPM</i> mutations ↗

  Neurology · 2009 · PMID 19770472
  not yet assessed
• Mental retardation and inborn errors of metabolism ↗

  Journal of Inherited Metabolic Disease · 2009 · PMID 19685154
  not yet assessed
• Invited comment ↗

  Acta Psychiatrica Scandinavica · 2009
  not yet assessed
• Geistige Behinderung infolge Stoffwechselkrankheit ↗

  Medizinische Genetik · 2009
  not yet assessed
• Physical Abnormalities in Metabolic Diseases ↗

  2009
  not yet assessed
• MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression ↗

  European Journal of Human Genetics · 2008 · PMID 18398436
  not yet assessed
• Lymphedema–distichiasis syndrome: a distinct type of primary lymphedema caused by mutations in the <i>FOXC2</i> gene ↗

  International Journal of Dermatology · 2008 · PMID 18986489
  not yet assessed
• To Test or Not to Test? Metabolic Testing in Adolescents and Adults With Intellectual Disability ↗

  Journal of Policy and Practice in Intellectual Disabilities · 2008
  not yet assessed
• It's in a chart! ↗

  European Journal of Human Genetics · 2008
  not yet assessed
• Multiple epiphyseal dysplasia as differenzial diagnosis in patients with L-Dopa responsive dystonia ↗

  Neuropediatrics · 2008
  not yet assessed
• Brain anomalies in encephalocraniocutaneous lipomatosis ↗

  American Journal of Medical Genetics Part A · 2007 · PMID 18000987
  not yet assessed
• Is Sanfilippo type B in your mind when you see adults with mental retardation and behavioral problems? ↗

  American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2007 · PMID 17640047
  not yet assessed
• Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis? ↗

  American Journal of Medical Genetics Part A · 2007 · PMID 18000896
  not yet assessed
• A chloroplast genealogy of myrmecophytic<i>Macaranga</i>species (Euphorbiaceae) in Southeast Asia reveals hybridization, vicariance and long‐distance dispersals ↗

  Molecular Ecology · 2006 · PMID 17107473
  not yet assessed
• MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients ↗

  Brain and Development · 2006 · PMID 16376510
  not yet assessed
• Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype ↗

  Journal of Medical Genetics · 2005 · PMID 15879499
  not yet assessed
• The outcome of diagnostic studies on the etiology of mental retardation: Considerations on the classification of the causes ↗

  American Journal of Medical Genetics Part A · 2005 · PMID 16086396
  not yet assessed
• Subtelomeric chromosome aberrations: still a lot to learn ↗

  Clinical Genetics · 2005 · PMID 16207207
  not yet assessed
• On the etiology of mental retardation: the clinical genetic approach ↗

  2005
  not yet assessed
• Randomized Trial of a Shared Decision-Making Intervention Consisting of Trade-Offs and Individualized Treatment Information for <i>BRCA1/2</i> Mutation Carriers ↗

  Journal of Clinical Oncology · 2004 · PMID 15310772
  not yet assessed
• Rett syndrome in females with CTS hot spot deletions: A disorder profile ↗

  American Journal of Medical Genetics Part A · 2004 · PMID 15578576
  not yet assessed
• Randomised trial of a decision aid and its timing for women being tested for a BRCA1/2 mutation ↗

  British Journal of Cancer · 2004 · PMID 14735173
  not yet assessed
• The decision evaluation scales ↗

  Patient Education and Counseling · 2004 · PMID 15893210
  not yet assessed
• Hereditary motor and sensory neuropathy (HMSN) IA, developmental delay and autism related disorder in a boy with duplication (17)(p11.2p12). ↗

  PubMed · 2004 · PMID 15083703
  not yet assessed
• MECP2 relateddisorders in male patients with mental retardation and neurological symptoms

  European Journal of Human Genetics · 2004
  not yet assessed
• Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2) ↗

  European Journal of Paediatric Neurology · 2003 · PMID 12615169
  not yet assessed
• Impact of <i>BRCA1/2</i> testing and disclosure of a positive test result on women affected and unaffected with breast or ovarian cancer ↗

  American Journal of Medical Genetics Part A · 2003 · PMID 14735581
  not yet assessed
• Rett syndrome in adolescent and adult females: Clinical and molecular genetic findings ↗

  American Journal of Medical Genetics Part A · 2003 · PMID 12966523
  not yet assessed
• Development and characterization of chloroplast microsatellite markers in<i>Macaranga</i>(Euphorbiaceae) ↗

  Genome · 2003 · PMID 14608402
  not yet assessed
• Deletion of chromosome region 18q21.1 → 18q21.3 in a patient without clinical features of the 18q‐ phenotype ↗

  American Journal of Medical Genetics Part A · 2003 · PMID 12784305
  not yet assessed
• Familial cryptic translocation with deletion 4q33→4qter and duplication 7q34→7qter in brothers with mental retardation, macrocephaly and iris coloboma ↗

  Clinical Dysmorphology · 2003 · PMID 12514363
  not yet assessed
• Chromosome bands and ends revisited ↗

  American Journal of Medical Genetics Part A · 2003 · PMID 12900910
  not yet assessed
• Alagille-syndroom: klinische en genetische aspecten ↗

  Tijdschrift voor kindergeneeskunde · 2003
  not yet assessed
• Thrips pollination of the dioecious ant plant <i>Macaranga hullettii</i> (Euphorbiaceae) in Southeast Asia ↗

  American Journal of Botany · 2002 · PMID 21669711
  not yet assessed
• Cardiac phenotypes in chromosome 4q− syndrome with and without a deletion of the dHAND gene ↗

  Genetics in Medicine · 2002 · PMID 12509719
  not yet assessed
• Wolf-Hirschhorn (4p-)syndrome in a near adult with major depression; successful treatment with citalopram. ↗

  PubMed · 2002 · PMID 12416637
  not yet assessed
• THRIPS POLLINATION OF THE DIOECIOUS ANT PLANT MACARANGA HULLETTII (EUPHORBIACEAE) IN

  2002
  not yet assessed
• Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III ↗

  The American Journal of Human Genetics · 2001 · PMID 11112658
  not yet assessed
• Acampomelic campomelic syndrome ↗

  American Journal of Medical Genetics · 2001 · PMID 11754051
  not yet assessed
• Holoprosencephaly: the Maastricht experience. ↗

  PubMed · 2001 · PMID 11693794
  not yet assessed
• Chemotherapy resistant ovarian cancer in carriers of an hMSH2 mutation? ↗

  Familial Cancer · 2001 · PMID 14574006
  not yet assessed
• Acampomelic campomelic syndrome ↗

  American Journal of Medical Genetics · 2001
  not yet assessed
• Lateral facial clefts: a case report. ↗

  PubMed · 2001 · PMID 11491312
  not yet assessed
• Slaapstoornissen bij een genetisch bepaalde verstandelijke handicap

  Data Archiving and Networked Services (DANS) · 2001
  not yet assessed
• Duplication of chromosome region 8p23.1 ? p23.3: A benign variant? ↗

  American Journal of Medical Genetics · 2000 · PMID 10751083
  not yet assessed
• Familial dup(8)(p12p21.1): Mild phenotypic effect and review of partial 8p duplications ↗

  American Journal of Medical Genetics · 2000 · PMID 11038444
  not yet assessed
• Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency ↗

  Human Genetics · 1999 · PMID 10071185
  not yet assessed
• Epidermolysis bullosa simplex with mottled pigmentation: Clinical aspects and confirmation of the P24L mutation in theKRT5 gene in further patients ↗

  American Journal of Medical Genetics · 1999 · PMID 10494094
  not yet assessed
• Two sibs with an unusual pattern of skeletal malformations resembling osteogenesis imperfecta: a new type of skeletal dysplasia? ↗

  Journal of Medical Genetics · 1999 · PMID 10544232
  not yet assessed
• Sibs with Axenfeld-Rieger anomaly, hydrocephalus, and leptomeningeal calcifications: A new autosomal recessive syndrome? ↗

  American Journal of Medical Genetics · 1998 · PMID 9677063
  not yet assessed
• Prenatal sonographic diagnosis of nuchal edema and double aneuploidy (48,XXY,+21): Discrepancy between results of chorionic villi and amniotic fluid sampling ↗

  Journal of Clinical Ultrasound · 1998 · PMID 9572391
  not yet assessed
• Spasticity, mental retardation, macrocephaly and distinct craniofacial appearance: confirmation of a new subtype of complicated spastic paraplegia? ↗

  PubMed · 1998 · PMID 9777344
  not yet assessed
• Prenatal sonographic diagnosis of nuchal edema and double aneuploidy (48,XXY,+21): Discrepancy between results of chorionic villi and amniotic fluid sampling ↗

  Journal of Clinical Ultrasound · 1998
  not yet assessed
• In vivo diagnosis of embryo mortality in sheep by real-time ultrasound ↗

  Small Ruminant Research · 1997
  not yet assessed
• Oculocerebrocutaneous syndrome: report of three additional cases and aetiological considerations ↗

  Clinical Genetics · 1997 · PMID 9383027
  not yet assessed
• Oculocerebrocutaneous syndrome: a case report, a follow-up, and differential diagnostic considerations. ↗

  PubMed · 1996 · PMID 8985729
  not yet assessed
• Alagille syndrome in a family with duplication 20p11 ↗

  Clinical Dysmorphology · 1996 · PMID 8905191
  not yet assessed
• Marker chromosome identification by micro‐FISH ↗

  Clinical Genetics · 1996 · PMID 8832132
  not yet assessed
• Clinical features in patients with duplications of chromosome 18

  Abstract book · 1996
  not yet assessed
• Partial trisomy of the short arm of chromosome 18 due to inversion duplication and direct duplication ↗

  Clinical Genetics · 1994 · PMID 7889659
  not yet assessed