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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
UnknownDe Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.
Not available
S-EPMC6037130 | biostudies-literature
UnknownWhole-genome sequencing of patients with rare diseases in a national health system.
Not available
S-EPMC7610553 | biostudies-literature
UnknownWhole-genome sequencing of a sporadic primary immunodeficiency cohort.
Not available
S-EPMC7334047 | biostudies-literature
UnknownGene and pathway level analyses of germline DNA-repair gene variants and prostate cancer susceptibility using the iCOGS-genotyping array.
Not available
S-EPMC5379914 | biostudies-literature
UnknownBi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Not available
S-EPMC6507039 | biostudies-literature
UnknownMultiple novel prostate cancer susceptibility signals identified by fine-mapping of known risk loci among Europeans.
Not available
S-EPMC4572072 | biostudies-literature
UnknownFour-Year Visual Outcomes in the Protocol W Randomized Trial of Intravitreous Aflibercept for Prevention of Vision-Threatening Complications of Diabetic Retinopathy.
Not available
S-EPMC10408259 | biostudies-literature
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