Showing 1 - 7 results of 7 for search 'Olga Shatokhina', query time: 0.03s Refine Results
  1. 1
    A Two-Year Clinical Description of a Patient with a Rare Type of Low-GGT Cholestasis Caused by a Novel Variant of <i>USP53</i>

    A Two-Year Clinical Description of a Patient with a Rare Type of Low-GGT Cholestasis Caused by a Novel Variant of <i>USP53</i> by Olga Shatokhina, Natalia Semenova, Nina Demina, Elena Dadali, Alexander Polyakov, Oxana Ryzhkova

    Published 2021-10-01
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  2. 2
    Palmoplantar Keratoderma: A Molecular Genetic Analysis of Family Cases

    Palmoplantar Keratoderma: A Molecular Genetic Analysis of Family Cases by Olga Shchagina, Valeriy Fedotov, Tatiana Markova, Olga Shatokhina, Oksana Ryzhkova, Tatiana Fedotova, Aleksander Polyakov

    Published 2022-08-01
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  3. 3
    <i>TRA2B</i> Gene Splice Variant Linked to Seizures and Neurodevelopmental Delay: A Second Case Study

    <i>TRA2B</i> Gene Splice Variant Linked to Seizures and Neurodevelopmental Delay: A Second Case Study by Olga Shatokhina, Valeriia Kovalskaia, Peter Sparber, Inna Sharkova, Irina Mishina, Vera Kuznetsova, Oxana Ryzhkova

    Published 2023-10-01
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  4. 4
    Clinical Presentation of a Patient with a Congenital Disorder of Glycosylation, Type IIs (<i>ATP6AP1</i>), and Liver Transplantation

    Clinical Presentation of a Patient with a Congenital Disorder of Glycosylation, Type IIs (<i>ATP6AP1</i>), and Liver Transplantation by Natalia Semenova, Olga Shatokhina, Olga Shchagina, Elena Kamenec, Andrey Marakhonov, Anna Degtyareva, Natalia Taran, Tatiana Strokova

    Published 2023-04-01
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  5. 5
    Audiological Evidence of Frequent Hereditary Mild, Moderate and Moderate-to-Severe Hearing Loss

    Audiological Evidence of Frequent Hereditary Mild, Moderate and Moderate-to-Severe Hearing Loss by Tatiana Markova, Natalia Alekseeva, Maria Lalayants, Oxana Ryzhkova, Olga Shatokhina, Nailya Galeeva, Elena Bliznetz, Oleg Belov, Svetlana Chibisova, Alexander Polyakov, George Tavartkiladze

    Published 2022-11-01
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  6. 6
    Spectrum of Genes for Non-<i>GJB2</i>-Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel

    Spectrum of Genes for Non-<i>GJB2</i>-Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel by Olga Shatokhina, Nailya Galeeva, Anna Stepanova, Tatiana Markova, Maria Lalayants, Natalia Alekseeva, George Tavarkiladze, Tatiana Markova, Liudmila Bessonova, Marina Petukhova, Daria Guseva, Inga Anisimova, Alexander Polyakov, Oxana Ryzhkova, Elena Bliznetz

    Published 2022-12-01
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  7. 7
    Genetic and Clinical Spectrum of GNE Myopathy in Russia

    Genetic and Clinical Spectrum of GNE Myopathy in Russia by Aysylu Murtazina, Sergey Nikitin, Galina Rudenskaya, Inna Sharkova, Artem Borovikov, Peter Sparber, Olga Shchagina, Alena Chukhrova, Oksana Ryzhkova, Olga Shatokhina, Anna Orlova, Vasilisa Udalova, Ilya Kanivets, Sergey Korostelev, Alexander Polyakov, Elena Dadali, Sergey Kutsev

    Published 2022-10-01
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