Search Results - R. A. Zinchenko

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  1. 1
    Proximal spinal muscular atrophy 5q in the Republic of North Ossetia – Alania: population-genetic features, diagnostic problems and treatment prospects

    Proximal spinal muscular atrophy 5q in the Republic of North Ossetia – Alania: population-genetic features, diagnostic problems and treatment prospects by I. S. Tebieva, A. F. Murtazina, S. B. Artemieva, Yu. V. Gabisova, R. A. Zinchenko

    Published 2022-06-01
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  2. 2
    Аutosomal Dominant Oculodental-Digital Dysplasia with Mutation in Gene GJA1 (Clinical Case)

    Аutosomal Dominant Oculodental-Digital Dysplasia with Mutation in Gene GJA1 (Clinical Case) by I. V. Zolnikova, V. V. Kadyshev, A. V. Marakhonov, S. I. Kutsev, R. A. Zinchenko

    Published 2021-04-01
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  3. 3
    Genetic variants of congenital glaucoma. Analysis of the literature and description of the clinical case

    Genetic variants of congenital glaucoma. Analysis of the literature and description of the clinical case by L. A. Katargina, V. V. Kadyshev, A. A. Sorokin, A. V. Pleskova, R. A. Zinchenko

    Published 2022-03-01
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  4. 4
    RESULTS OF MASS SCREENING OF NEWBORNS WITH CYSTIC FIBROSIS IN MOSCOW

    RESULTS OF MASS SCREENING OF NEWBORNS WITH CYSTIC FIBROSIS IN MOSCOW by Z.A. Kusova, N.V. Petrova, T.A. Vasil'eva, N.Yu. Kashirskaya, R.A. Zinchenko, N.I. Kapranov

    Published 2010-11-01
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  5. 5
    The clinical spectrum and prevalence of hereditary ophthalmopathology child population in 12 districts of the Rostov region

    The clinical spectrum and prevalence of hereditary ophthalmopathology child population in 12 districts of the Rostov region by O. L. Kireeva, O. V. Chlebnikova, S. S. Amelina, G. I. Elchinova, R. A. Zinchenko, V. V. Kadsjyshev, E. K. Ginter

    Published 2014-07-01
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  6. 6
    Clinical manifestations of familial exudative vitreoretinopathy in children with nucleotide sequence alterations in the FZD4 gene

    Clinical manifestations of familial exudative vitreoretinopathy in children with nucleotide sequence alterations in the FZD4 gene by L. A. Katargina, V. V. Kadyshev, E. V. Denisova, E. A. Geraskina, A. V. Marakhonov, S. A. Garifullina, I. V. Zolnikova, R. A. Zinchenko

    Published 2022-01-01
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  7. 7
    Choroideremia with Mutation in CHM Gene. Clinical Cases with Literature Review

    Choroideremia with Mutation in CHM Gene. Clinical Cases with Literature Review by I. V. Zolnikova, S. V. Milash, V. V. Kadyshev, A. B. Chernyak, D. V. Levina, R. A. Zinchenko, I. V. Egorova, E. A. Eremeeva, S. Y. Rogova

    Published 2019-03-01
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  8. 8
    Socioeconomic efficiency of neonatal screening for spinal muscular atrophy in the Russian Federation

    Socioeconomic efficiency of neonatal screening for spinal muscular atrophy in the Russian Federation by I. A. Komarov, A. R. Malakhova, T. P. Vasilyeva, E. Yu. Shukan, O. Yu. Aleksandrova, R. A. Zinchenko, A. V. Polyakov, S. S. Nikitin, E. Yu. Sapego, S. I. Kutsev

    Published 2023-10-01
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  9. 9
    Clinical and Genetic Correlations of Inherital Retinal Disease with Mutations in the ABCA4 Gene by Patients of the Russian Population

    Clinical and Genetic Correlations of Inherital Retinal Disease with Mutations in the ABCA4 Gene by Patients of the Russian Population by I. V. Zolnikova, V. V. Kadyshev, A. V. Marakhonov, A. B. Chernyak, S. V. Milash, Yu. A. Bobrovskaya, N. A. Urakova, N. Sh. Kokoeva, S. I. Kutsev, R. A. Zinchenko

    Published 2021-12-01
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  10. 10
    Trends in Life Expectancy of Cystic Fibrosis Patients in Moscow and their Connection with the Treatment Received: Retrospective Analysis for 1993–2013

    Trends in Life Expectancy of Cystic Fibrosis Patients in Moscow and their Connection with the Treatment Received: Retrospective Analysis for 1993–2013 by N. Yu. Kashirskaya, S. A. Krasovsky, A. V. Chernyak, V. D. Sherman, A. Yu. Voronkova, L. A. Shabalova, V. S. Nikonova, Yu. V. Gorinova, O. I. Simonova, E. L. Amelina, E. I. Kondrat’eva, N. I. Kapranov, N. V. Petrova, R. A. Zinchenko

    Published 2015-09-01
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  11. 11
    First results of long-term follow-up of children in Russia after gene therapy for hereditary retinal dystrophies associated with biallelic mutations in the RPE65 gene

    First results of long-term follow-up of children in Russia after gene therapy for hereditary retinal dystrophies associated with biallelic mutations in the RPE65 gene by V. V. Neroev, L. A. Katargina, M. P. Kharlampidi, L. V. Kogoleva, I. V. Zolnikova, P. A. Ilyukhin, E. V. Denisova, S. V. Milash, N. A. Osipova, S. I. Kutsev, A. V. Polyakov, R. A. Zinchenko, V. V. Kadyshev, Yu. A. Bobrovskaya

    Published 2023-12-01
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