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  1. Complex assessment of pathogenicity of novel variant c.516G > C (p.Trp172Cys) in the GJB2 gene associated with hearing loss in indigenous peoples of Southern Siberia (Russia)

    Maslova, E. A., Zytsar, M. V., Danilchenko, V. Y., Orishchenko, K. E. & Posukh, O. L., 1 Dec 2020, In: European journal of human genetics. 28, Suppl 1, p. 191-192 2 p., P02.27.B.

    Research output: Contribution to journal › Meeting Abstract › peer-review

  2. Different Rates of the SLC26A4-Related Hearing Loss in Two Indigenous Peoples of Southern Siberia (Russia)

    Danilchenko, V. Y., Zytsar, M. V., Maslova, E. A., Bady-Khoo, M. S., Barashkov, N. A., Morozov, I. V., Bondar, A. A. & Posukh, O. L., Dec 2021, In: Diagnostics. 11, 12, 2378.

    Research output: Contribution to journal › Article › peer-review

  3. Evidence of thicker epidermal layer in individuals heterozygous for mutation c.-23+1G > A in GJB2 gene (Cx26)

    Solovyev, A. V., Barashkov, N. A., Teryutin, F. M., Pshennikova, V. G., Romanov, G. P., Rafailov, A. M., Sazonov, N. N., Posukh, O. L., Khusnutdinova, E. K. & Fedorova, S. A., Oct 2019, In: European journal of human genetics. 27, p. 1754-1754 1 p.

    Research output: Contribution to journal › Meeting Abstract › peer-review

  4. Founder haplotype bearing mutation c.1621C > T (p.Gln541*) in the FYCO1 gene causing of autosomal recessive cataract (CTRCT18) in the Sakha Republic of Russia

    Barashkov, N. A., Vychuzhina, L. S., Solovyev, A. V., Teryutin, F. M., Pshennikova, V. G., Burtseva, T. E., Tomsky, M. I., Platonov, F. A., Romanov, G. P., Gotovtsev, N. N., Khusnutdinova, E. K., Posukh, O. L. & Fedororva, S. A., Oct 2019, In: European journal of human genetics. 27, p. 1220-1221 2 p.

    Research output: Contribution to journal › Meeting Abstract › peer-review

  5. Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains

    Posukh, O. L., Maslova, E. A., Danilchenko, V. Y., Zytsar, M. V. & Orishchenko, K. E., 13 Oct 2023, In: Biomolecules. 13, 10, 1521.

    Research output: Contribution to journal › Review article › peer-review

  6. Functional evaluation of a rare variant c.516g>c (p.trp172cys) in the GJB2 (connexin 26) gene associated with nonsyndromic hearing loss

    Maslova, E. A., Orishchenko, K. E. & Posukh, O. L., Jan 2021, In: Biomolecules. 11, 1, p. 1-15 15 p., 61.

    Research output: Contribution to journal › Article › peer-review

  7. Genetic etiology of hearing loss in Russia

    Posukh, O. L., Apr 2022, In: Human Genetics. 141, 3-4, p. 649-663 15 p.

    Research output: Contribution to journal › Review article › peer-review

  8. High rates of three common GJB2 mutations c.516g>c, c.-23+1g>a, c.235delc in deaf patients from southern siberia are due to the founder effect

    Zytsar, M. V., Bady-Khoo, M. S., Danilchenko, V. Y., Maslova, E. A., Barashkov, N. A., Morozov, I. V., Bondar, A. A. & Posukh, O. L., 1 Jul 2020, In: Genes. 11, 7, p. 1-17 17 p., 833.

    Research output: Contribution to journal › Article › peer-review

  9. Insight into genetic and social aspects of modern communities of deaf people in Siberia for forecasting the prevalence of hereditary deafness

    Posukh, O. L., Bady-Khoo, M. S., Romanov, G. P., Barashkov, N. A., Smirnova, A. A., Zytsar, M. V., Maslova, E. A., Danilchenko, V. Y., Posukh, O. V. & Lashin, S. A., Jul 2019, In: European journal of human genetics. 27, p. 1038-1038 1 p.

    Research output: Contribution to journal › Meeting Abstract › peer-review

  10. Insight into the Natural History of Pathogenic Variant c.919-2A>G in the SLC26A4 Gene Involved in Hearing Loss: The Evidence for Its Common Origin in Southern Siberia (Russia)

    Danilchenko, V. Y., Zytsar, M. V., Maslova, E. A., Orishchenko, K. E. & Posukh, O. L., 17 Apr 2023, In: Genes. 14, 4, 928.

    Research output: Contribution to journal › Article › peer-review

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