Disease: Deafness- autosomal dominant nonsyndromic sensorineural 23
- A family with nonsyndromic hearing impairment caused by intermarry
- A novel <em>KCNQ4</em> gene variant (c.857A>G; p.Tyr286Cys) in an extended family with non‑syndromic deafness 2A
- A novel KCNQ4 gene variant (c.857A>G; p.Tyr286Cys) in an extended family with non-syndromic deafness 2A
- Audiometric Characteristics of a Dutch DFNA10 Family With Mid-Frequency Hearing Impairment
- Etiological diagnosis of bilateral, sensorineural hearing impairment in a pediatric Greek population
- Evaluation of deaf children in a large series in Turkey
- Genetic and audiological characters of a Chinese family with non-syndromic hereditary hearing loss
- High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non-syndromic hearing loss (NSHL)
- Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores
- Identification of a novel DFNA5 mutation, IVS7-2 a > G, in a Chinese family with non-syndromic sensorineural hearing loss
- Identification of a novel DFNA5 mutation, IVS7-2 a > G, in a Chinese family with non-syndromic sensorineural hearing loss
- Mutation of a transcription factor, TFCP2L3, causes progressive autosomal dominant hearing loss, DFNA28
- Mutational analysis of candidate genes in a Chinese pedigree with dominantly inherited auditory neuropathy
- Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)
- Mutations of MAP1B encoding a microtubule-associated phosphoprotein cause sensorineural hearing loss
- MYH9: Structure, functions and role of non-muscle myosin IIA in human disease
- Phenotypic variability in a seven-generation Swedish family segregating autosomal dominant hearing impairment due to a novel EYA4 frameshift mutation
- Prevalence and clinical features of hearing loss caused by EYA4 variants
- Sensorineural hearing loss and mild cardiac phenotype caused by an <em>EYA4</em> mutation
- Sensorineural hearing loss and mild cardiac phenotype caused by an EYA4 mutation
- The DFNA15 deafness mutation affects POU4F3 protein stability, localization, and transcriptional activity
- The relationship between the GJB3 c.538C>T variant and hearing phenotype in the Chinese population
- The worldwide frequency of MYO15A gene mutations in patients with non-syndromic hearing loss: A meta-analysis