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UnknownEvidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy.
Not available
S-EPMC5290331 | biostudies-literature
UnknownDe Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.
Not available
S-EPMC6037130 | biostudies-literature
UnknownTitin-related familial dilated cardiomyopathy: factors associated with disease onset.
Not available
S-EPMC12718689 | 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 patients with rare diseases in a national health system.
Not available
S-EPMC7610553 | biostudies-literature
UnknownTelomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data.
Not available
S-EPMC5778012 | biostudies-literature
UnknownWhole-genome sequencing of a sporadic primary immunodeficiency cohort.
Not available
S-EPMC7334047 | biostudies-literature
UnknownElective surgery cancellations due to the COVID-19 pandemic: global predictive modelling to inform surgical recovery plans.
Not available
S-EPMC7272903 | biostudies-literature
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