Results 91 to 100 of about 675 (134)

Functional consequences of Genetics variant in TMC1 and TMC2 within a United Arab Emirates family with Pre-lingual hearing loss. [PDF]

Saudi J Biol Sci, 2023
Al Mutery A, Kamal Eldin Mohamed W, Mahfood M, Chouchen J, Tlili A.   +4 more
europepmc   +1 more source

Molecular and Clinical Characterization of a Cohort of Autosomal Recessive Sensorineural Hearing Loss in Egyptian Patients. [PDF]

J Mol Neurosci
Sayed-Ahmed MM, El-Bassyouni HT, Afifi HH, Essawi ML, Taher MB, Gadelhak MI, Zaytoun RA, Abdelmonem AA, Elbagoury NM.   +8 more
europepmc   +1 more source

A novel splicing variant in the TMC1 gene causes non-syndromic hearing loss in a Chinese family. [PDF]

Chin Med J (Engl), 2022
Zeng B, Xu H, Tian Y, Lin Q, Feng H, Zhang Z, Li S, Tang W.   +7 more
europepmc   +1 more source

Recent advances in genetic etiology of non-syndromic deafness in children. [PDF]

Front Neurosci, 2023
Feng Y, Hu S, Zhao S, Chen M.
europepmc   +1 more source

Segregation of Trans Mutations in the CDH23 Gene in an Emirati Family with Sensorineural Hearing Loss. [PDF]

Genes (Basel)
Alsebeyi M, Mutery AA, Tehsil Gul M, Tlili A.   +3 more
europepmc   +1 more source

Whole Exome Sequencing Identifies Novel Splicing Variants in the PTPRQ Gene and Their Mechanisms in Autosomal Recessive Non-Syndromic Hearing Loss. [PDF]

J Otol
Zhang K, Xin X, Liu J, Hou B, Qu P, Xu X, Zhang H.   +6 more
europepmc   +1 more source

Clinical Details of Low-Frequency Hearing Loss Observed in Autosomal Dominant <i>MYO7A</i>-Associated Hearing Loss Patients. [PDF]

Genes (Basel)
Koizumi H, Nishio SY, Usami SI, Deafness Gene Study Consortium.   +3 more
europepmc   +1 more source

Hearing loss: a global view for gene therapy approaches and challenges. [PDF]

Eur J Pediatr
Elbagoury NM.
europepmc   +1 more source

Whole Exome Sequencing of Non-Syndromic Hearing Loss Patients. [PDF]

Iran J Public Health
Naddafnia H, Noormohammadi Z, Irani S, Salahshoorifar I.   +3 more
europepmc   +1 more source

A Village in the Southeastern Region of Iran Harboring the c.716T>A (p.Val239Asp) Mutation in <i>SLC26A4</i>. [PDF]

Arch Iran Med
Zare Ashrafi F, Dorgaleleh S, Rezvani Rezvandeh R, Kazemi N, Azizi N, Edizadeh M, Azizi MH, Kahrizi K, Najmabadi H, Najafipour R, Mohseni M.   +10 more
europepmc   +1 more source