1. Unique mutational spectrum of the GJB2 gene and its pathogenic contribution to deafness in tuvinians (Southern siberia, russia): A high prevalence of rare variant c.516G>C (p.trp172Cys)

    Posukh, O. L., Zytsar, M. V., Bady-Khoo, M. S., Danilchenko, V. Y., Maslova, E. A., Barashkov, N. A., Bondar, A. A., Morozov, I. V., Maximov, V. N. & Voevoda, M. I., 5 Jun 2019, In: Genes. 10, 6, 17 p., 429.

    Research output: Contribution to journalArticlepeer-review

  2. Updated carrier rates for c.35delG (GJB2) associated with hearing loss in Russia and common c.35delG haplotypes in Siberia

    Zytsar, M. V., Barashkov, N. A., Bady-Khoo, M. S., Shubina-Olejnik, O. A., Danilenko, N. G., Bondar, A. A., Morozov, I. V., Solovyev, A. V., Danilchenko, V. Y., Maximov, V. N. & Posukh, O. L., 7 Aug 2018, In: BMC Medical Genetics. 19, 1, p. 138 9 p., 138.

    Research output: Contribution to journalArticlepeer-review

  3. Waardenburg syndrome in the Sakha Republic (Eastern Siberia, Russia): mutation analyses of genes PAX3, MITF, SOX10 and SNAI2

    Барашков, Н., Борисова, У., Романов, Г., Соловьев, А., Пшенникова, В., Терютин, Ф., Бондарь, А., Морозов, И. В., Джемилева, Л., Хуснутдинова, Э., Посух, О. Л. & Федорова, С., 1 Jul 2019, In: European journal of human genetics. 26, p. 852 2 p., E-P02.25.

    Research output: Contribution to journalConference articlepeer-review

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