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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. A Method for Assessing the Efficiency of the Nucleotide Excision Repair System Ex Vivo

    Popov, A. A., Orishchenko, K. E., Naumenko, K. N., Evdokimov, A. N., Petruseva, I. O. & Lavrik, O. I., Sept 2021, In: Acta Naturae. 13, 3, p. 122-125 4 p., 13.

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

  3. Adaptation of CRISPR/Cas9 system for directed elimination of mitochondrial DNA copies with mutations

    Zakirova, E., Mazunin, I. & Orishchenko, K., Jul 2021, In: FEBS Open Bio. 11, p. 118-118 1 p.

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

  4. 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

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