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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
UnknownDe Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.
Not available
S-EPMC6037130 | biostudies-literature
UnknownGenetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.
Not available
S-EPMC4735748 | biostudies-literature
UnknownBi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Not available
S-EPMC6507039 | biostudies-literature
UnknownPrevalence, associated factors and outcomes of pressure injuries in adult intensive care unit patients: the DecubICUs study.
Not available
S-EPMC7880913 | biostudies-literature
UnknownWhole-genome sequencing of a sporadic primary immunodeficiency cohort.
Not available
S-EPMC7334047 | biostudies-literature
UnknownElliptic anisotropy measurement of the f<sub>0</sub>(980) hadron in proton-lead collisions and evidence for its quark-antiquark composition.
Not available
S-EPMC12391314 | biostudies-literature
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