Latest Publications
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
Helicase-like transcription factor (hltf) regulates g2/m transition, wt1/gata4/hif-1a cardiac transcription networks, and collagen biogenesis
Role of Helicase-Like Transcription Factor (Hltf) in the G2/M Transition and Apoptosis in Brain