1. A rare case of Waardenburg syndrome with unilateral hearing loss caused by nonsense variant c.772C>T (p.Arg259*) in the MITF gene in Yakut patient from the Eastern Siberia (Sakha Republic, Russia)

    Barashkov, N. A., Romanov, G. P., Borisova, U. P., Solovyev, A. V., Pshennikova, V. G., Teryutin, F. M., Bondar, A. A., Morozov, I. V., Khusnutdinova, E. K., Posukh, O. L., Burtseva, T. E., Odland, J. Ø. & Fedorova, S. A., 1 Jan 2019, In: International Journal of Circumpolar Health. 78, 1, p. 1630219 1630219.

    Research output: Contribution to journalArticlepeer-review

  2. A novel pathogenic variant c.975G>A (p.Trp325*) in the POU3F4 gene in Yakut family (Eastern Siberia, Russia) with the X-linked deafness-2 (DFNX2)

    Barashkov, N. A., Klarov, L. A., Teryutin, F. M., Solovyev, A. V., Pshennikova, V. G., Konnikova, E. E., Romanov, G. P., Tobokhov, A. V., Morozov, I. V., Bondar, A. A., Posukh, O. L., Dzhemileva, L. U., Tomsky, M. I., Khusnutdinova, E. K. & Fedorova, S. A., 1 Jan 2018, In: International Journal of Pediatric Otorhinolaryngology. 104, p. 94-97 4 p.

    Research output: Contribution to journalArticlepeer-review

  3. A novel pathogenic variant c.975G > A (p.Trp325*) in the POU3F4 gene in Yakut family (Eastern Siberia, Russia) with the X-linked deafness-2 (DFNX2)

    Barashkov, N. A., Klarov, L. A., Teryutin, F. M., Solovyev, A. V., Pshennikova, V. G., Konnikova, E. E., Romanov, G. P., Tobokhov, A. V., Morozov, I. V., Bondar, A. A., Posukh, O. L., Dzhemileva, L. U., Tomsky, M. I., Khusnutdinova, E. K. & Fedorova, S. A., Jan 2018, In: International Journal of Pediatric Otorhinolaryngology. 104, p. 94-97 4 p.

    Research output: Contribution to journalArticlepeer-review

  4. Analysis of GJB6 (Сx30) and GJB3 (Сx31) genes in deaf patients with monoallelic mutations in GJB2 (Сx26) gene in the Sakha Republic (Yakutia)

    Pshennikova, V. G., Barashkov, N. A., Solovyev, A. V., Romanov, G. P., Diakonov, E. E., Sazonov, N. N., Morozov, I. V., Bondar, A. A., Posukh, O. L., Dzhemileva, L. U., Khusnutdinova, E. K., Tomsky, M. I. & Fedorova, S. A., 1 Jun 2017, In: Russian Journal of Genetics. 53, 6, p. 688-697 10 p.

    Research output: Contribution to journalArticlepeer-review

  5. Allelic diversity of the GJB2 gene in deaf patients and ethnically matched controls from Turkic-speaking populations of South Siberia

    Zytsar, M. V., Bady-Khoo, M. S., Maslova, E. A., Danilchenko, V. Y., Barashkov, N. A., Morozov, I. V., Bondar, A. A. & Posukh, O. L., Jul 2019, In: European journal of human genetics. 27, p. 894-895 2 p.

    Research output: Contribution to journalMeeting Abstractpeer-review

Previous 1 2 3 Next

ID: 3436381