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Identification of a long non-coding RNA as a novel biomarker and potential therapeutic target for metastatic prostate cancer
The Many Faces of Sensorineural Hearing Loss: One Founder and Two Novel Mutations Affecting One Family of Mixed Jewish Ancestry
Disruption of the ATE1 and SLC12A1 Genes by Balanced Translocation in a Boy with Non-Syndromic Hearing Loss
Arteriolar niches maintain haimatopoietic stem cell quiescence
Confirmation of GRHL2 as the gene for the DFNA28 locus
Role of Gα(olf) in familial and sporadic adult-onset primarydystonia
Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy, and Leigh-like syndrome) caused by novel mutations in SERAC1
A Novel Autosomal Recessive GJA1 Missense Mutation Linked to Craniometaphyseal Dysplasia
Exome sequencing as a diagnostic tool to identify a causal mutation in genetically highly heterogeneous limb-girdle muscular dystrophy
Genetic heterogeneity and consanguinity lead to a “double hit”: Homozygous mutations of MYO7A and PDE6B in a patient with retinitis pigmentosa