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UnknownDevelopment of a guideline for orthopaedic management in the care of children and young people with Duchenne muscular dystrophy in the UK National Health Service.
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S-EPMC12187703 | biostudies-literature
UnknownReproducibility of Ocular Surface Staining in the Assessment of Sjogren Syndrome-Related Keratoconjunctivitis Sicca: Implications on Disease Classification.
Not available
S-EPMC6710016 | 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
UnknownGWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements.
Not available
S-EPMC9385867 | 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
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
UnknownMicroRNA related polymorphisms and breast cancer risk.
Not available
S-EPMC4229095 | biostudies-literature
UnknownGenetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study.
Not available
S-EPMC4522594 | biostudies-literature
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