Almuth Caliebe

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)

• Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis
  2025 L1 88/100

1 assessed by us (1 reproduced) · 129 not yet assessed — every PubMed paper on record, linked below.

• DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defects ↗

  Genome Medicine · 2026 · PMID 41501857
  not yet assessed
• Additional file 1 of DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defects ↗

  Figshare · 2026
  not yet assessed
• Additional file 2 of DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defects ↗

  Figshare · 2026
  not yet assessed
• Additional file 1 of DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defects ↗

  MDC Repository (Max-Delbrueck-Center for Molecular Medicine) · 2026
  not yet assessed
• DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defects ↗

  Figshare · 2026
  not yet assessed
• Additional file 2 of DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defects ↗

  Figshare · 2026
  not yet assessed
• DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defects ↗

  Figshare · 2026
  not yet assessed
• AUTOMATED VERSUS MANUAL REANALYSIS IN RARE DISEASE GENOMICS ↗

  medRxiv · 2026
  not yet assessed
• Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption ↗

  Nature Genetics · 2025 · PMID 40379786
  not yet assessed
• Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis

  Genome Medicine · 2025 · PMID 40963120
  L1 88/100
• Comprehensive androgen-dependent transcriptome analysis in human genital tissue ↗

  BMC Genomics · 2025 · PMID 41249932
  not yet assessed
• Williams-Beuren Syndrome and Epilepsy: A Retrospective Analysis of 589 Patients ↗

  Journal of Child Neurology · 2025 · PMID 39840696
  not yet assessed
• Comprehensive androgen-dependent transcriptome analysis in human genital tissue ↗

  Research Square · 2025
  not yet assessed
• LINE1-mediated epigenetic repression of androgen receptor transcription causes androgen insensitivity syndrome ↗

  Scientific Reports · 2024 · PMID 39009627
  not yet assessed
• Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption ↗

  medRxiv · 2024
  not yet assessed
• Evaluating Genome Sequencing Strategies: Trio, Singleton, and Standard Testing in Rare Disease Diagnosis ↗

  medRxiv · 2024
  not yet assessed
• Aberrant phase separation and nucleolar dysfunction in rare genetic diseases ↗

  Nature · 2023 · PMID 36755093
  not yet assessed
• Formin-mediated nuclear actin at androgen receptors promotes transcription ↗

  Nature · 2023 · PMID 36972684
  not yet assessed
• Formin-mediated nuclear actin assembly at androgen receptors promotes transcriptional droplet formation ↗

  Research Square · 2023
  not yet assessed
• Mutational Changes in Solid Cancer Cells Induce DNA Damage Repair Deficiency in Hematopoietic Cells Leading to a Distinct Spectrum of Clonal Hematopoiesis Independent from Age-Related Clonal Hematopoiesis ↗

  Blood · 2023
  not yet assessed
• Die klinische Relevanz des Kagami-Ogata-Syndroms für die neonatologische Versorgung ↗

  Zeitschrift für Geburtshilfe und Neonatologie · 2023
  not yet assessed
• Formin-mediated nuclear actin at androgen receptors promotes transcription ↗

  Yearbook of pediatric endocrinology · 2023
  not yet assessed
• Formin-mediated nuclear actin at androgen receptors promotes transcription ↗

  Yearbook of pediatric endocrinology · 2023
  not yet assessed
• Annular pancreas in two sisters: The story goes on ↗

  American Journal of Medical Genetics Part A · 2023 · PMID 37789234
  not yet assessed
• The clinical relevance of Kagami-Ogata syndrome for neonatal care ↗

  Zeitschrift für Geburtshilfe und Neonatologie · 2023
  not yet assessed
• Case Report: GNAQ- and SF3B1 Mutations in an Aggressive Case of Relapsing Uveal Ring Melanoma ↗

  Frontiers in Oncology · 2022 · PMID 35692773
  not yet assessed
• Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease ↗

  PLoS Genetics · 2021 · PMID 34324492
  not yet assessed
• Genome sequencing in families with congenital limb malformations ↗

  Human Genetics · 2021 · PMID 34159400
  not yet assessed
• Aggressive B-cell lymphoma cases with 11q aberration patterns indicate a spectrum beyond Burkitt-like lymphoma ↗

  Blood Advances · 2021 · PMID 34500469
  not yet assessed
• Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease ↗

  PLoS Genetics · 2021
  not yet assessed
• Androgen insensitivity without an androgen receptor mutation: results from a large cohort study

  Pure Amsterdam UMC · 2021
  not yet assessed
• Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome is caused by de novo mutations in <i>protein kinase D1</i> ↗

  Journal of Medical Genetics · 2020 · PMID 32817298
  not yet assessed
• A Giant Mammary Hamartoma in a Young Breast Cancer Patient ↗

  Breast Care · 2020 · PMID 33716636
  not yet assessed
• Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2 ↗

  Molecular Genetics and Metabolism Reports · 2020 · PMID 33117653
  not yet assessed
• A non-Cowden syndrome associated giant hamartoma of the breast in a young breast cancer patient ↗

  Geburtshilfe und Frauenheilkunde · 2020
  not yet assessed
• Large scale multifactorial likelihood quantitative analysis of <i>BRCA1</i> and <i>BRCA2</i> variants: An ENIGMA resource to support clinical variant classification ↗

  Human Mutation · 2019 · PMID 31131967
  not yet assessed
• Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer ↗

  Nature Communications · 2019 · PMID 30988301
  not yet assessed
• CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum ↗

  Genetics in Medicine · 2019 · PMID 31239556
  not yet assessed
• A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development ↗

  The American Journal of Human Genetics · 2019 · PMID 31006513
  not yet assessed
• Association of Genomic Domains in <i>BRCA1</i> and <i>BRCA2</i> with Prostate Cancer Risk and Aggressiveness ↗

  Cancer Research · 2019 · PMID 31723001
  not yet assessed
• The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer ↗

  npj Breast Cancer · 2019 · PMID 31700994
  not yet assessed
• A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder ↗

  European Journal of Medical Genetics · 2019 · PMID 31805394
  not yet assessed
• DNA methylation profiling allows for characterization of atrial and ventricular cardiac tissues and hiPSC-CMs ↗

  Clinical Epigenetics · 2019 · PMID 31186048
  not yet assessed
• Reduced Androgen Receptor Expression in Genital Skin Fibroblasts From Patients With 45,X/46,XY Mosaicism ↗

  The Journal of Clinical Endocrinology & Metabolism · 2019 · PMID 31180485
  not yet assessed
• A specific CNOT1 mutation results in a novel syndrome of pancreatic agenesis and holoprosencephaly through impaired pancreatic and neurological development ↗

  Yearbook of pediatric endocrinology · 2019
  not yet assessed
• Additional file 17: of DNA methylation profiling allows for characterization of atrial and ventricular cardiac tissues and hiPSC-CMs ↗

  Figshare · 2019
  not yet assessed
• Additional file 19: of DNA methylation profiling allows for characterization of atrial and ventricular cardiac tissues and hiPSC-CMs ↗

  Figshare · 2019
  not yet assessed
• Additional file 15: of DNA methylation profiling allows for characterization of atrial and ventricular cardiac tissues and hiPSC-CMs ↗

  Figshare · 2019
  not yet assessed
• Additional file 18: of DNA methylation profiling allows for characterization of atrial and ventricular cardiac tissues and hiPSC-CMs ↗

  Figshare · 2019
  not yet assessed
• Additional file 14: of DNA methylation profiling allows for characterization of atrial and ventricular cardiac tissues and hiPSC-CMs ↗

  Figshare · 2019
  not yet assessed
• Additional file 16: of DNA methylation profiling allows for characterization of atrial and ventricular cardiac tissues and hiPSC-CMs ↗

  Figshare · 2019
  not yet assessed
• Mutational spectrum in a worldwide study of 29,700 families with<i>BRCA1</i>or<i>BRCA2</i>mutations ↗

  Human Mutation · 2018 · PMID 29446198
  not yet assessed
• TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants ↗

  Genetics in Medicine · 2018 · PMID 30245509
  not yet assessed
• Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants ↗

  Genetics in Medicine · 2018 · PMID 30327536
  not yet assessed
• Reply to letter by Dr. G. Corso ↗

  Archives of Gynecology and Obstetrics · 2018 · PMID 29492670
  not yet assessed
• Reduced Androgen Receptor Expression in Patients with 45,X/46,XY Mosaicism

  ESPE Abstracts · 2018
  not yet assessed
• Hematopoietic stem cell involvement in BCR-ABL1–positive ALL as a potential mechanism of resistance to blinatumomab therapy ↗

  Blood · 2017 · PMID 28827408
  not yet assessed
• CDH1 mutation screen in a BRCA1/2-negative familial breast-/ovarian cancer cohort ↗

  Archives of Gynecology and Obstetrics · 2017 · PMID 28993866
  not yet assessed
• <i>STXBP1</i> encephalopathy ↗

  Neurology · 2016 · PMID 26865513
  not yet assessed
• Phenotypic Spectrum and Extent of DNA Methylation Defects Associated with Multilocus Imprinting Disturbances ↗

  Epigenomics · 2016 · PMID 27323310
  not yet assessed
• Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1 ↗

  European Journal of Medical Genetics · 2016 · PMID 27613244
  not yet assessed
• Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes ↗

  Human Genetics · 2015 · PMID 25724810
  not yet assessed
• Mutations in <i> <scp>CDK</scp> 5 <scp>RAP</scp> 2 </i> cause Seckel syndrome ↗

  Molecular Genetics & Genomic Medicine · 2015 · PMID 26436113
  not yet assessed
• Array-based DNA methylation analysis in individuals with developmental delay/intellectual disability and normal molecular karyotype ↗

  European Journal of Medical Genetics · 2015 · PMID 26003415
  not yet assessed
• The Differentially Methylated Region of <i>MEG8</i> is Hypermethylated in Patients with Temple Syndrome ↗

  Epigenomics · 2015 · PMID 26541061
  not yet assessed
• In vivo Investigations of the Effect of Short- and Long-Term Recombinant Growth Hormone Treatment on DNA-Methylation in Humans ↗

  PLoS ONE · 2015 · PMID 25785847
  not yet assessed
• Mutations in CDK5RAP2 cause Seckel syndrome

  Kölner Universitäts PublikationsServer (Universität zu Köln) · 2015
  not yet assessed
• Partial Hydatidiform Mole With Extensive Angiomatoid Vessel Configuration in a First Trimester Miscarriage ↗

  International Journal of Gynecological Pathology · 2015 · PMID 25844548
  not yet assessed
• Cushing Syndrome due to Adrenocortical Carcinoma in a 3-month-old Infant with a Large Interstitial Deletion of Chromosome 5q Including the APC Gene

  54th Annual ESPE · 2015
  not yet assessed
• Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes ↗

  Nature Genetics · 2014 · PMID 25362483
  not yet assessed
• Array-based DNA methylation profiling in male infertility reveals allele-specific DNA methylation in PIWIL1 and PIWIL2 ↗

  Fertility and Sterility · 2014 · PMID 24524831
  not yet assessed
• Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome ↗

  The American Journal of Human Genetics · 2014 · PMID 25480037
  not yet assessed
• A familial disorder of altered DNA-methylation ↗

  Journal of Medical Genetics · 2014 · PMID 24721835
  not yet assessed
• The Co‐Occurrence of Tricho‐Rhino‐Phalangeal Syndrome and Early‐Onset Levodopa‐Sensitive Parkinsonism ↗

  Movement Disorders Clinical Practice · 2014 · PMID 30363875
  not yet assessed
• A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling ↗

  Human Molecular Genetics · 2013 · PMID 23906836
  not yet assessed
• Fine Mapping of the 1p36 Deletion Syndrome Identifies Mutation of PRDM16 as a Cause of Cardiomyopathy ↗

  The American Journal of Human Genetics · 2013 · PMID 23768516
  not yet assessed
• Microdeletion 5q14.3 and anomalies of brain development ↗

  American Journal of Medical Genetics Part A · 2013 · PMID 23824879
  not yet assessed
• Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders ↗

  American Journal of Medical Genetics Part A · 2013 · PMID 23913548
  not yet assessed
• Deep Bisulfite Sequencing of Aberrantly Methylated Loci in a Patient with Multiple Methylation Defects ↗

  PLoS ONE · 2013 · PMID 24130816
  not yet assessed
• Structural genomic variation in childhood epilepsies with complex phenotypes ↗

  European Journal of Human Genetics · 2013 · PMID 24281369
  not yet assessed
• Analysis of SYCP3 encoding synaptonemal complex protein 3 in human aneuploidies ↗

  Archives of Gynecology and Obstetrics · 2013 · PMID 23677416
  not yet assessed
• Correction: Deep Bisulfite Sequencing of Aberrantly Methylated Loci in a Patient with Multiple Methylation Defects ↗

  PLoS ONE · 2013
  not yet assessed
• Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly ↗

  The American Journal of Human Genetics · 2012 · PMID 22305528
  not yet assessed
• DNA-Methylation Profiling of Fetal Tissues Reveals Marked Epigenetic Differences between Chorionic and Amniotic Samples ↗

  PLoS ONE · 2012 · PMID 22723920
  not yet assessed
• Frequency and characterization of DNA methylation defects in children born SGA ↗

  European Journal of Human Genetics · 2012 · PMID 23232699
  not yet assessed
• <i>CDKL5</i> Mutations as a Cause of Severe Epilepsy in Infancy ↗

  Journal of Child Neurology · 2012 · PMID 22832775
  not yet assessed
• Chromosomal mosaicisms in prenatal diagnosis: correlation with first trimester screening and clinical outcome ↗

  Journal of Perinatal Medicine · 2012 · PMID 22505498
  not yet assessed
• Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities: A novel phenotype ↗

  American Journal of Medical Genetics Part A · 2012 · PMID 22987502
  not yet assessed
• Satisfaction with Genital Surgery and Sexual Life of Adults with XY Disorders of Sex Development: Results from the German Clinical Evaluation Study ↗

  The Journal of Clinical Endocrinology & Metabolism · 2011 · PMID 22090272
  not yet assessed
• Antiviral and Regulatory T Cell Immunity in a Patient with Stromal Interaction Molecule 1 Deficiency ↗

  The Journal of Immunology · 2011 · PMID 22190180
  not yet assessed
• A de novo 1.1 Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation ↗

  European Journal of Medical Genetics · 2011 · PMID 21700002
  not yet assessed
• A de novo 0.57 Mb microdeletion in chromosome 11q13.1 in a patient with speech problems, autistic traits, dysmorphic features and multiple endocrine neoplasia type 1 ↗

  European Journal of Medical Genetics · 2011 · PMID 21600320
  not yet assessed
• A 1 Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson–Golabi–Behmel syndrome ↗

  European Journal of Medical Genetics · 2011 · PMID 21362501
  not yet assessed
• A 2 Mb deletion in 14q13 associated with severe developmental delay and hemophagocytic lymphohistiocytosis ↗

  European Journal of Medical Genetics · 2011 · PMID 21736959
  not yet assessed
• Normal prenatal ultrasound findings in a case with<i>de novo</i>mosaic small supernumerary marker chromosome 18 – how to counsel? ↗

  The Journal of Maternal-Fetal & Neonatal Medicine · 2011 · PMID 21476793
  not yet assessed
• Isolated trisomy 7q21.2-31.31 resulting from a complex familial rearrangement involving chromosomes 7, 9 and 10 ↗

  Molecular Cytogenetics · 2011 · PMID 22136633
  not yet assessed
• Novel Tandem Duplication in Exon 1 of the SNURF/SNRPN Gene in a Child with Transient Excessive Eating Behaviour and Weight Gain ↗

  Molecular Syndromology · 2011 · PMID 22511895
  not yet assessed
• Array CGH-based Identification of Aberrations in Patients with complex Phenotypes and Heart Defects

  2011
  not yet assessed
• Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene ↗

  European Journal of Medical Genetics · 2010 · PMID 20382278
  not yet assessed
• Maternal uniparental disomy 15 in a fetus resulting from a balanced familial translocation t(2;15)(p11;q11.2) ↗

  Prenatal Diagnosis · 2010 · PMID 20063327
  not yet assessed
• Genotype–phenotype correlation in eight new patients with a deletion encompassing 2q31.1 ↗

  American Journal of Medical Genetics Part A · 2010 · PMID 20425826
  not yet assessed
• Deletions in 16p13 including <i>GRIN2A</i> in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region ↗

  Epilepsia · 2010 · PMID 20384727
  not yet assessed
• Preimplantation genetic diagnosis (polar body biopsy) and trisomy 21 ↗

  Human Reproduction · 2010 · PMID 20106838
  not yet assessed
• No significantly increased frequency of the inversion polymorphism at the WBS-critical region 7q11.23 in German parents of patients with Williams-Beuren syndrome as compared to a population control ↗

  Molecular Cytogenetics · 2010 · PMID 21054846
  not yet assessed
• A de novo unbalanced translocation leading to partial monosomy 9p23-pter and partial trisomy 15q25.3-qter associated with 46,XY complete gonadal dysgenesis, tall stature and mental retardation ↗

  Clinical Dysmorphology · 2010 · PMID 20671549
  not yet assessed
• Conflicting results of prenatal FISH with different probes for Down's Syndrome critical regions associated with mosaicism for a de novo del(21)(q22) characterised by molecular karyotyping: Case report ↗

  Molecular Cytogenetics · 2010 · PMID 20815924
  not yet assessed
• A specific mutation in the distant sonic hedgehog (<i>SHH</i>)<i>cis</i>-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb ↗

  Human Mutation · 2009 · PMID 19847792
  not yet assessed
• Dyschromatosis ptychotropica: an unusual pigmentary disorder in a boy with epileptic encephalopathy and progressive atrophy of the central nervous system—a novel entity? ↗

  European Journal of Pediatrics · 2009 · PMID 19707786
  not yet assessed
• Genetic counseling in Robertsonian translocations der(13;14): Frequencies of reproductive outcomes and infertility in 101 pedigrees ↗

  American Journal of Medical Genetics Part A · 2008 · PMID 18798317
  not yet assessed
• A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader–Willi syndrome ↗

  European Journal of Human Genetics · 2008 · PMID 19066619
  not yet assessed
• Catel–Manzke syndrome: Two new patients and a critical review of the literature ↗

  European Journal of Medical Genetics · 2008 · PMID 18501694
  not yet assessed
• Microarray‐based DNA methylation analysis of imprinted loci in a patient with transient neonatal diabetes mellitus ↗

  American Journal of Medical Genetics Part A · 2008 · PMID 19012334
  not yet assessed
• Kaudales Regressionssyndrom - kaudale Agenesie ↗

  Klinische Pädiatrie · 2008 · PMID 18098097
  not yet assessed
• Congenital diaphragmatic hernia, etiology and management, a 10-year analysis of a single center ↗

  Archives of Gynecology and Obstetrics · 2007 · PMID 17680260
  not yet assessed
• Clinical and molecular genetic features of ARC syndrome ↗

  Human Genetics · 2006 · PMID 16896922
  not yet assessed
• Novel CYP1B1 and Known PAX6 Mutations in Anterior Segment Dysgenesis (ASD) ↗

  Journal of Glaucoma · 2006 · PMID 17106362
  not yet assessed
• Characterization of two supernumerary marker chromosomes in a patient with signs of Klinefelter syndrome, mild facial anomalies, and severe speech delay* ↗

  American Journal of Medical Genetics Part A · 2006 · PMID 16470789
  not yet assessed
• Different sizes of the duplicated region in partial proximal trisomy 10q syndrome might be caused by rearrangements affecting intrachromosomal repeats

  Medizinische Genetik · 2006
  not yet assessed
• No mutation in the gene for Noonan syndrome, <i>PTPN11</i>, in 18 patients with Costello syndrome ↗

  American Journal of Medical Genetics Part A · 2003 · PMID 12900909
  not yet assessed
• Phenotypical variation in cousins with the identical partial trisomy 9 (pter‐q22.2) and 7 (q35‐qter) at 16 and 23 weeks gestation ↗

  American Journal of Medical Genetics Part A · 2003 · PMID 15057986
  not yet assessed
• Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia ↗

  European Journal of Pediatrics · 2002 · PMID 12424590
  not yet assessed
• [Molecular variants of fibrinogen]. ↗

  PubMed · 2002 · PMID 12193975
  not yet assessed
• Molekulare Varianten des Fibrinogens ↗

  Hämostaseologie · 2002
  not yet assessed
• Absence of 9q22-9qter in trisomy 9 does not prevent a Dandy-Walker phenotype ↗

  American Journal of Medical Genetics · 2000 · PMID 11146460
  not yet assessed
• Low molecular thymic peptides stimulate human blood dendritic cells. ↗

  PubMed · 2000 · PMID 11062696
  not yet assessed
• Prenatal diagnosis of ductus venosus agenesis: a report of two cases and review of the literature ↗

  Ultrasound in Obstetrics and Gynecology · 1998 · PMID 9589141
  not yet assessed
• Sonographically detected fetal and placental abnormalities associated with trisomy 16 confined to the placenta. A case report and review of the literature ↗

  Prenatal Diagnosis · 1998 · PMID 9885025
  not yet assessed
• Mild phenotypic manifestations of terminal deletion of the long arm of chromosome 4: clinical description of a new patient ↗

  Clinical Genetics · 1997 · PMID 9298747
  not yet assessed
• Periodontal manifestation of hypophosphatasia. A family case report ↗

  Journal Of Clinical Periodontology · 1994 · PMID 7852617
  not yet assessed
• Transmission of a ring chromosome 18 from a mother with 46,XX/47,XX, + r(18) mosaicism to her daughter, resulting in a 46,XX,r(18) karyotype. ↗

  Journal of Medical Genetics · 1993 · PMID 8301656
  not yet assessed