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UnknownCase Report: A Novel Homozygous Missense Variant of FBN3 Supporting It Is a New Candidate Gene Causative of a Bardet-Biedl Syndrome-Like Phenotype.
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S-EPMC9334770 | biostudies-literature
UnknownA Pain in the Neck: Lessons Learnt from Genetic Testing in Fetuses Detected with Nuchal Fluid Collections, Increased Nuchal Translucency versus Cystic Hygroma-Systematic Review of the Literature, Meta-Analysis and Case Series.
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S-EPMC9818917 | biostudies-literature
UnknownProduction and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome.
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S-EPMC6617992 | biostudies-literature
UnknownNeurodevelopmental Impairment As the Main Phenotypic Hallmark Associated with the Translocation t(7;10)(7p22.3;q26.11).
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S-EPMC8847059 | biostudies-literature
UnknownIdentification of a De Novo Xq26.2 Microduplication Encompassing FIRRE Gene in a Child with Intellectual Disability.
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S-EPMC7760855 | biostudies-literature
UnknownThe WHO International Standard for COVID-19 serological tests: towards harmonization of anti-spike assays.
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S-EPMC8403673 | biostudies-literature
UnknownDesign, Construction and Validation of Targeted BAC Array-Based CGH Test for Detecting the Most Commons Chromosomal Abnormalities.
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S-EPMC4510597 | biostudies-literature
UnknownKoolen-de Vries syndrome in a 63-year-old woman: Report of the oldest patient and a review of the adult phenotype.
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S-EPMC9297928 | biostudies-literature
UnknownClinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome.
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S-EPMC10133340 | biostudies-literature
UnknownCorrelating Neuroimaging and CNVs Data: 7 Years of Cytogenomic Microarray Analysis on Patients Affected by Neurodevelopmental Disorders.
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S-EPMC8608469 | biostudies-literature
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