Published in Mutat Res on August 29, 2008
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Combined examination of sequence and copy number variations in human deafness genes improves diagnosis for cases of genetic deafness. BMC Ear Nose Throat Disord (2014) 0.83
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Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss. BMC Genomics (2014) 0.81
Optimization of simultaneous screening of the main mutations involved in non-syndromic deafness using the TaqMan® OpenArray™ Genotyping platform. BMC Med Genet (2013) 0.81
OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67). Orphanet J Rare Dis (2015) 0.81
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A systematic review and meta-analysis of 235delC mutation of GJB2 gene. J Transl Med (2012) 0.79
The carrier rate and mutation spectrum of genes associated with hearing loss in South China hearing female population of childbearing age. BMC Med Genet (2013) 0.79
Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China. PLoS One (2016) 0.79
A novel homozygous mutation in the EC1/EC2 interaction domain of the gap junction complex connexon 26 leads to profound hearing impairment. Biomed Res Int (2014) 0.78
Mutations in LOXHD1 gene cause various types and severities of hearing loss. Ann Otol Rhinol Laryngol (2015) 0.78
Compound Heterozygosity for Two Novel SLC26A4 Mutations in a Large Iranian Pedigree with Pendred Syndrome. Clin Exp Otorhinolaryngol (2013) 0.78
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Distinct Expression Patterns Of Causative Genes Responsible For Hereditary Progressive Hearing Loss In Non-Human Primate Cochlea. Sci Rep (2016) 0.78
Exome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese family. J Hum Genet (2015) 0.78
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Differences in the pathogenicity of the p.H723R mutation of the common deafness-associated SLC26A4 gene in humans and mice. PLoS One (2013) 0.77
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GJB2 c.-23+1G>A mutation is second most common mutation among Iranian individuals with autosomal recessive hearing loss. Eur Arch Otorhinolaryngol (2014) 0.76
Perioperative challenges in management of a deaf and dumb patient posted for high-risk cardiac surgery. Ann Card Anaesth (2016) 0.75
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Whole-exome sequencing identifies a novel genotype-phenotype correlation in the entactin domain of the known deafness gene TECTA. PLoS One (2014) 0.75
Screening of DFNB3 in Iranian families with autosomal recessive non-syndromic hearing loss reveals a novel pathogenic mutation in the MyTh4 domain of the MYO15A gene in a linked family. Iran J Basic Med Sci (2016) 0.75
Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss. PLoS One (2016) 0.75
Accelerated age-related olfactory decline among type 1 Usher patients. Sci Rep (2016) 0.75
Single nucleotide polymorphisms of the GJB2 and GJB6 genes are associated with autosomal recessive nonsyndromic hearing loss. Biomed Res Int (2015) 0.75
A Novel Frameshift Mutation of SLC26A4 in a Korean Family With Nonsyndromic Hearing Loss and Enlarged Vestibular Aqueduct. Clin Exp Otorhinolaryngol (2016) 0.75
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Application of SNPscan in Genetic Screening for Common Hearing Loss Genes. PLoS One (2016) 0.75
A study of deafness-related genetic mutations as a basis for strategies to prevent hereditary hearing loss in Hebei, China. Intractable Rare Dis Res (2015) 0.75
Illumina sequencing of 15 deafness genes using fragmented amplicons. BMC Res Notes (2014) 0.75
A novel pore-region mutation, c.887G > A (p.G296D) in KCNQ4, causing hearing loss in a Chinese family with autosomal dominant non-syndromic deafness 2. BMC Med Genet (2017) 0.75
Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients. PLoS One (2016) 0.75
Further characterisation of the recently described SLC26A4 c.918+2T>C mutation and reporting of a novel variant predicted to be damaging. Acta Otorhinolaryngol Ital (2016) 0.75
Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach. PLoS One (2017) 0.75
A novel dominant GJB2 (DFNA3) mutation in a Chinese family. Sci Rep (2017) 0.75
Severe to profound deafness may be associated with MYH9-related disease: report of 4 patients. Acta Otorhinolaryngol Ital (2016) 0.75
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