Results 121 to 130 of about 12,592,373 (135)

Decreased disulphide/thiol ratio in patients with autosomal recessive non-syndromic hearing loss

International Journal of Pediatric Otorhinolaryngology, 2018
Introduction: Oxidative stress plays a key role in the formation of age-related, noise-induced and drug-induced hearing loss. Thiols are organic compounds which can react with free radicals to protect against tissue and cell damage caused by reactive ...
Aslihan Kiraz, Murat Erdogan, Ozcan Bektaş   +2 more
exaly   +2 more sources

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A Descriptive Observational Study of GJB2 and GJB6 Mutations in Familial Autosomal Recessive Non-syndromic Hearing Impairment

Indian Journal of Otolaryngology and Head and Neck Surgery, 2023
Bharti Malhotra, Mohnish Grover, Shruti Bhargava   +2 more
exaly  

Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 Variants

Journal of Clinical Medicine, 2022
Tytti Willberg, Jukka Moilanen, Minna Kraatari-Tiri   +2 more
exaly  

GJB2 mutations in Iranians with autosomal recessive non-syndromic sensorineural hearing loss

Human Mutation, 2002
Mohammad Farhadi, Hossein Najmabadi, Richard Smith   +2 more
exaly  

New gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p

American Journal of Medical Genetics Part A, 1997
Guy van Camp, Val Sheffield, Michael Lovett   +2 more
exaly  

A novel frameshift mutation in KCNQ4 in a family with autosomal recessive non-syndromic hearing loss

Biochemical and Biophysical Research Communications, 2015
Sawako Masuda, Koichiro Wasano, Tatsuo Matsunaga   +2 more
exaly  

GJB2 mutations causing autosomal recessive non-syndromic hearing loss (ARNSHL) in two Iranian populations: Report of two novel variants

International Journal of Pediatric Otorhinolaryngology, 2018
Somayeh Reiisi, Mahboobeh Koohiyan, Morteza Hashemzadeh-Chaleshtori   +2 more
exaly  

Digenic inheritance in autosomal recessive non-syndromic hearing loss cases carrying GJB2 heterozygote mutations: Assessment of GJB4, GJA1, and GJC3

International Journal of Pediatric Otorhinolaryngology, 2013
Morteza Hashemzadeh-Chaleshtori, Effat Farrokhi, Daniz Kooshavar   +2 more
exaly  

An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population

International Journal of Pediatric Otorhinolaryngology, 2017
Fatemeh Zarei, Tohid Ghasemnejad, Sima Mansoori Derakhshan   +2 more
exaly  

A truncating mutation in GPSM2 is associated with recessive non‐syndromic hearing loss

Clinical Genetics, 2012
Duygu Duman, Mary-Claire King, Hatice Akay   +2 more
exaly