1. A common founder effect of the splice site variant c.-23 + 1G > A in GJB2 gene causing autosomal recessive deafness 1A (DFNB1A) in Eurasia

    Solovyev, A. V., Kushniarevich, A., Bliznetz, E., Bady-Khoo, M., Lalayants, M. R., Markova, T. G., Minárik, G., Kádasi, L., Metspalu, E., Pshennikova, V. G., Teryutin, F. M., Khusnutdinova, E. K., Poliakov, A., Metspalu, M., Posukh, O. L., Barashkov, N. A. & Fedorova, S. A., Apr 2022, In: Human Genetics. 141, 3-4, p. 697-707 11 p.

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

  2. Accelerator-based boron neutron capture therapy: in vivo experiments

    Каныгин, В. В., Касатова, А. И., Кичигин, А. И., Завьялов, Е. Л., Разумов, И. А., Мухамадияров, Р. А. & Таскаев, С. Ю., 2021, 19th International Congress on Neutron Capture Therapy Granada, Spain, September 27th - October 1st, 2021. Book of Abstacts. Вена: International Atomic Energy Agency, p. 152 1 p. О14

    Research output: Chapter in Book/Report/Conference proceeding › Conference contribution › Research › peer-review

  3. A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication

    Karamysheva, T. V., Lebedev, I. N., Minaycheva, L. I., Nazarenko, L. P., Kashevarova, A. A., Fedotov, D. A., Skryabin, N. A., Lopatkina, M. E., Cheremnykh, A. D., Fonova, E. A., Nikitina, T. V., Sazhenova, E. A., Skleimova, M. M., Kolesnikov, N. A., Drozdov, G. V., Yakovleva, Y. S., Seitova, G. N., Orishchenko, K. E. & Rubtsov, N. B., Mar 2024, In: Frontiers in Genetics. 15, 1331066.

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

  4. 3DGenBench: a web-server to benchmark computational models for 3D Genomics

    Belokopytova, P., Viesná, E., Chiliński, M., Qi, Y., Salari, H., Di Stefano, M., Esposito, A., Conte, M., Chiariello, A. M., Teif, V. B., Plewczynski, D., Zhang, B., Jost, D. & Fishman, V., 5 Jul 2022, In: Nucleic Acids Research. 50, W1, p. W4-W12

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

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