Results 101 to 110 of about 675 (134)

Whole exome sequencing diagnosing syndromic and non-syndromic hearing loss with expansion of the phenotypic spectrum related to TMC1 variants. [PDF]

Eur J Pediatr
Elbagoury NM, Ashaat EA, Mekkawy MK, Mohamed RY, Askoura AM, Milad PM, Essawi ML.   +6 more
europepmc   +1 more source

The Segregation of p.Arg68Ter-CLDN14 Mutation in a Syrian Deaf Family, Phenotypic Variations, and Comparative Analysis with the GJB2 Gene. [PDF]

Genes (Basel)
Tlili A, Mutery AA, Chouchen J.
europepmc   +1 more source

Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss. [PDF]

BMC Med Genomics
Zheng K, Lin S, Gao J, Chen S, Su J, Liu Z, Duan S.   +6 more
europepmc   +1 more source

Next-Generation Sequencing of Chinese Children with Congenital Hearing Loss Reveals Rare and Novel Variants in Known and Candidate Genes. [PDF]

Biomedicines
Jin Y, Liu X, Zhang Q, Xiong Y, Hu Y, He H, Chen W, Sun Y.   +7 more
europepmc   +1 more source

The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B. [PDF]

Sci Rep
Watanabe K, Nishio SY, Usami SI, Deafness Gene Study Consortium.   +3 more
europepmc   +1 more source

Genotype-Phenotype Correlations in TMPRSS3 (DFNB10/DFNB8) with Emphasis on Natural History.

Audiol Neurootol, 2023
Nisenbaum E, Yan D, Shearer AE, de Joya E, Thielhelm T, Russell N, Staecker H, Chen Z, Holt JR, Liu X.   +9 more
europepmc   +1 more source

Identification of known and novel genetic variants in sensorineural hearing loss: insights from whole exome sequencing in Indian families. [PDF]

Mol Biol Rep
Jagannath K, Bhat N, Ghosh A, Tawade H, Cherian S, Shettigar S.   +5 more
europepmc   +1 more source

Mendelian non-syndromic and syndromic hearing loss genes contribute to presbycusis. [PDF]

Eur J Hum Genet
Cornejo-Sanchez DM, Bharadwaj T, Dong R, Wang GT, Schrauwen I, DeWan AT, Leal SM.   +6 more
europepmc   +1 more source

Recurrent and Novel Pathogenic Variants in Genes Involved with Hearing Loss in the Pakistani Population. [PDF]

Mol Diagn Ther
Shadab M, Ben-Mahmoud A, Martínez Völter LN, Abbasi AA, Ku B, Ejaz A, Latif Z, Gupta V, Owrang D, Jang MH, Zhang Z, Mohammad R, Houlden H, Kim HG, Vona B.   +14 more
europepmc   +1 more source

A Novel Deleterious MYO15A Gene Mutation Causes Nonsyndromic Hearing Loss. [PDF]

Iran J Otorhinolaryngol
Neissi M, Al-Badran AI, Mohammadi-Asl J.
europepmc   +1 more source