Zobrazeno 1 - 2 of 2 pro vyhledávání: '"Venkatesan Nityaa"'
1
Autosomal Dominant Hearing Loss resulting from p.R75Q Mutation in theGJB2Gene: Nonsyndromic presentation in a South Indian Family
Autor: C. R. Srikumari Srisailapathy, Venkatesan Nityaa, Murali Narasimhan, Mathiyalagan Selvakumari, Amritkumar Pavithra, Narasimhan Sharanya, Rajagopalan Ramakrishnan
Publikováno v: Annals of Human Genetics. 79:76-82
Mutations in the GJB2 gene encoding the gap junction protein Connexin 26 have been associated with autosomal recessive as well as dominant nonsyndromic hearing loss. Owing to the involvement of connexins in skin homeostasis, GJB2 mutations have also
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::dea761fae24127c549121b9e38dfba2e
https://doi.org/10.1111/ahg.12086
Zobrazit plný text záznamu
2
Autosomal dominant hearing loss resulting from p.R75Q mutation in the GJB2 gene: nonsyndromic presentation in a South Indian family
Autor: Amritkumar, Pavithra, Mathiyalagan, Selvakumari, Venkatesan, Nityaa, Narasimhan, Sharanya, Rajagopalan, Ramakrishnan, Murali, Narasimhan, C R Srikumari, Srisailapathy
Publikováno v: Annals of human genetics. 79(1)
Mutations in the GJB2 gene encoding the gap junction protein Connexin 26 have been associated with autosomal recessive as well as dominant nonsyndromic hearing loss. Owing to the involvement of connexins in skin homeostasis, GJB2 mutations have also
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b3a3823847d51016a2b3188f83c8fe65
https://pubmed.ncbi.nlm.nih.gov/25393658
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje