Latest Physician Education Resources
Functional characterization of a novel loss-of-function mutation of PRPS1 related to early-onset progressive nonsyndromic hearing loss in Koreans (DFNX1): Potential implications on future therapeutic intervention
Identification of a novel GATA3 mutation in a deaf Taiwanese family by massively parallel sequencing, Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis
Targeted Exome Sequencing of Deafness Genes After Failure of Auditory Phenotype-Driven Candidate Gene Screening
Targeted gene capture and massively parallel sequencing identify TMC1 as the causative gene in a six-generation Chinese family with autosomal dominant hearing loss
Dnmt3a loss predisposes murine hematopoietic stem cells to malignant transformation
Discovery of a novel ligand that modulates the protein–protein interactions of the AAA+ superfamily oncoprotein reptin
Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis
Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations
Genes involved in the WNT and vesicular trafficking pathways are associated with melanoma predisposition
Reduced efficiency of sarcolipin-dependent respiration in myocytes from humans with severe obesity