Associated Papers
Clinical application of whole exome sequencing (WES) in the genetic diagnosis of 768 Chinese patients with bilateral hearing loss.
Kang H et al.
European Journal of Human Genetics : Ejhg, 2025
40542191 (PubMed )
Supplement: 41431_2025_1896_MOESM1_ESM.xlsx › Sheet1
Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A.
Yang JY et al.
Bmc Medical Genomics, 2022
Analysis of the genotype-phenotype correlation of MYO15A variants in Chinese non-syndromic hearing loss patients.
Fu Y et al.
Bmc Medical Genomics, 2022
[Analysis of MYO15A variation in children with DFNB3].
Ren SM et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2020
Whole exome sequencing identifies novel compound heterozygous pathogenic variants in the MYO15A gene leading to autosomal recessive non-syndromic hearing loss.
Sarmadi A et al.
Molecular Biology Reports, 2020
Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss.
Zhang J et al.
Bmc Medical Genetics, 2019
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