Sort   by:  
 Page size 
UnknownBi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Not available
S-EPMC6507039 | 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
UnknownCharacterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
Not available
S-EPMC8246418 | 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
UnknownTelomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data.
Not available
S-EPMC5778012 | biostudies-literature
UnknownDe Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.
Not available
S-EPMC6037130 | 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
UnknownWhole-genome sequencing of a sporadic primary immunodeficiency cohort.
Not available
S-EPMC7334047 | biostudies-literature
UnknownWhole-genome sequencing of patients with rare diseases in a national health system.
Not available
S-EPMC7610553 | biostudies-literature
UnknownPlasma AR Alterations and Timing of Intensified Hormone Treatment for Prostate Cancer: the STAMPEDE Phase 3 Randomized Clinical Trial.
Not available
S-EPMC11869088 | biostudies-literature
Sort   by:  
 Page size