1. The homozygote p.V27I/p.E114G variant of GJB2 is a putative indicator of nonsyndromic hearing loss in Chinese infants
    Wen-xia Chen et al, 2016, International Journal of Pediatric Otorhinolaryngology CrossRef
  2. A Mutational Analysis of GJB2, SLC26A4, MT-RNA1, and GJB3 in Children with Nonsyndromic Hearing Loss in the Henan Province of China
    Liang Ming et al, 2019, Genetic Testing and Molecular Biomarkers CrossRef
  3. Screening and analysis of mutation hot-spots in deafness-associated genes among adolescents with hearing loss
    HONG JIANG et al, 2015, Molecular Medicine Reports CrossRef
  4. GJB2 and GJB6 Mutations in Non-Syndromic Childhood Hearing Impairment in Ghana
    Samuel M. Adadey et al, 2019, Frontiers in Genetics CrossRef
  5. Deafness Gene Mutations in Newborns in the Foshan Area of South China With Bloodspot-Based Genetic Screening Tests
    Shunwang Cao et al, 2020, American Journal of Audiology CrossRef
  6. Molecular diagnosis of SLC26A4-related hereditary hearing loss in a group of patients from two provinces of Iran
    Mahbobeh Koohiyan et al, 2021, Intractable & Rare Diseases Research CrossRef
  7. Prevalence and audiological profiles of GJB2 mutations in a large collective of hearing impaired patients
    W.F. Burke et al, 2016, Hearing Research CrossRef
  8. Mutation analysis of GJB2, SLC26A4, GJB3 and mtDNA12SrRNA genes in 251 non-syndromic hearing loss patients in Fujian, China
    Yikang Xiong et al, 2024, International Journal of Pediatric Otorhinolaryngology CrossRef
  9. Der erweiterte vestibuläre Aquädukt – Dehiszenzsyndrome – „Honeycomb Mastoid“
    Martin Westhofen, 2020, HNO CrossRef
  10. Mutation analysis of common deafness-causing genes among 506 patients with nonsyndromic hearing loss from Wenzhou city, China
    Yan-bao Xiang et al, 2019, International Journal of Pediatric Otorhinolaryngology CrossRef
  11. Genetic analysis of SLC26A4 gene (pendrin) related deafness among a cohort of assortative mating families from southern India
    Jayasankaran Chandru et al, 2020, European Archives of Oto-Rhino-Laryngology CrossRef
  12. Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss
    Desiree DeMille et al, 2018, American Journal of Medical Genetics Part A CrossRef
  13. Elucidation of the unique mutation spectrum of severe hearing loss in a Vietnamese pediatric population
    Jae Joon Han et al, 2019, Scientific Reports CrossRef