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UnknownDe Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.
Not available
S-EPMC6037130 | biostudies-literature
UnknownComprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Not available
S-EPMC5223092 | biostudies-literature
UnknownBiallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.
Not available
S-EPMC5294887 | biostudies-literature
UnknownTelomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data.
Not available
S-EPMC5778012 | biostudies-literature
UnknownComprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
Not available
S-EPMC6037202 | biostudies-literature
UnknownChanges in Body Mass Index in Children and Adolescents Living With Human Immunodeficiency Virus in Europe and Thailand Starting Dolutegravir.
Not available
S-EPMC12712701 | biostudies-literature
UnknownBi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Not available
S-EPMC6507039 | biostudies-literature
UnknownTherapeutic Hypothermia after In-Hospital Cardiac Arrest in Children.
Not available
S-EPMC5310766 | biostudies-literature
UnknownGWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements.
Not available
S-EPMC9385867 | biostudies-literature
UnknownWhole-genome sequencing of a sporadic primary immunodeficiency cohort.
Not available
S-EPMC7334047 | biostudies-literature
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