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Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions.
Bliznetz EA, Lalayants MR, Markova TG, Balanovsky OP, Balanovska EV, Skhalyakho RA, Pocheshkhova EA, Nikitina NV, Voronin SV, Kudryashova EK, Glotov OS, Polyakov AV. Bliznetz EA, et al. Among authors: polyakov av. J Hum Genet. 2017 Aug;62(8):789-795. doi: 10.1038/jhg.2017.42. Epub 2017 Apr 13. J Hum Genet. 2017. PMID: 28405014 Free PMC article.
[Neurological presentations of oculodentodigital dysplasia].
Rudenskaya GE, Dyomina NA, Bliznetz EA, Khlebnikova OV, Dadaly EL, Polyakov AV. Rudenskaya GE, et al. Among authors: polyakov av. Zh Nevrol Psikhiatr Im S S Korsakova. 2018;118(5):85-91. doi: 10.17116/jnevro20181185185. Zh Nevrol Psikhiatr Im S S Korsakova. 2018. PMID: 29927410 Russian.
[Epidemiology of hearing loss in children of the first year of life].
Chibisova SS, Markova TG, Alekseeva NN, Yasinskaya AA, Tsygankova ER, Bliznetz EA, Polyakov AV, Tavartkiladze GA. Chibisova SS, et al. Among authors: polyakov av. Vestn Otorinolaringol. 2018;83(4):37-42. doi: 10.17116/otorino201883437. Vestn Otorinolaringol. 2018. PMID: 30113578 Russian.
[The analysis of the association of the polymorphic variants of the TPMT, COMT, and ABCC3 genes with the development of hearing disorders induced by the cisplatin treatment].
Mironovich OL, Bliznetz EA, Garbaruk ES, Belogurova MB, Subora NV, Varfolomeeva SR, Kachanov DY, Shamanskaya TV, Markova TG, Polyakov AV. Mironovich OL, et al. Among authors: polyakov av. Vestn Otorinolaringol. 2018;83(4):60-66. doi: 10.17116/otorino201883460. Vestn Otorinolaringol. 2018. PMID: 30113582 Russian.
108 results