Results 31 to 40 of about 9,773 (106)

Loss-of-function mutations in MYO15A and OTOF cause non-syndromic hearing loss in two Yemeni families. [PDF]

Hum Genomics, 2023
Asaad M, Mahfood M, Al Mutery A, Tlili A.   +3 more
europepmc   +1 more source

Clinical and Genetic Characterization of Gap Junction Protein β-6 Variants in Non-Syndromic Hearing Loss: A Case Report with Familial Evaluation and <i>In Silico</i> Analyses. [PDF]

Iran J Med Sci
Zahedi Abghari F, Mohseni M, Esmaeilzadeh E, Ghasemi H, Khorram Khorshid HR, Najafipour R.   +5 more
europepmc   +1 more source

Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss. [PDF]

PLoS One, 2022
Lei P, Zhu Q, Dong W, Zhang S, Sun Y, Du X, Geng M, Jiang Y.   +7 more
europepmc   +1 more source

Identification of a novel <i>PLS1</i> heterozygous variant causing autosomal dominant non-syndromic hearing loss. [PDF]

Exp Ther Med
Yang C, Xiong Y, Wang D, Shi J.
europepmc   +1 more source

Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene. [PDF]

Genes (Basel), 2022
Riza AL, Alkhzouz C, Farcaș M, Pîrvu A, Miclea D, Mihuț G, Pleșea RM, Ștefan D, Drodar M, Lazăr C, On Behalf Of The Hint Study, On Behalf Of The Fuse Study, Ioana M, Popp R.   +13 more
europepmc   +1 more source

Simultaneous MT-RNR1 and MYO15A Mutations in a Family with Non-Syndromic Hearing Loss. [PDF]

J Int Adv Otol
Chen Y, Yang R, Chen Y, Zhang T, Ma J.
europepmc   +1 more source

An Extended Iranian Family with Autosomal Dominant Non-syndromic Hearing Loss Associated with A Nonsense Mutation in the DIAPH1 Gene. [PDF]

Arch Iran Med, 2023
Mohseni M, Mohammadi Y, Zare Ashrafi F, Ghodratpour F, Jalalvand K, Arzhangi S, Babanejad M, Azizi MH, Kahrizi K, Najmabadi H.   +9 more
europepmc   +1 more source

GJB2 c.109G > A mutation activating IFI27-mediated mitochondrial apoptosis pathway leading to hereditary non-syndromic hearing loss. [PDF]

Sci Rep
Chen Y, Zhao P, Lin Q, Zeng Y, Qiu X, Huang T, Tang J, Xu L.   +7 more
europepmc   +1 more source

Mutation spectrum of non-syndromic hearing loss in the UAE, a retrospective cohort study and literature review. [PDF]

Mol Genet Genomic Med, 2022
Elsayed O, Al-Shamsi A.
europepmc   +1 more source

Genetic Analysis of the LOXHD1 Gene in Chinese Patients With Non-Syndromic Hearing Loss. [PDF]

Front Genet, 2022
Wang WQ, Gao X, Huang SS, Kang DY, Xu JC, Yang K, Han MY, Zhang X, Yang SY, Yuan YY, Dai P.   +10 more
europepmc   +1 more source