Search Results - T. I. Meshcheryakova

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  1. 1
    Fatal familial insomnia, associated with PRNP mutation (clinical case)

    Fatal familial insomnia, associated with PRNP mutation (clinical case) by T. V. Kozhanova, S. S. Zhylina, T. I. Meshcheryakova, E. S. Bolshakova, K. V. Osipova, N. N. Zavadenko

    Published 2024-10-01
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  2. 2
    A rare genetic Schuurs-Hoeijmakers syndrome (PACS1 syndrome)

    A rare genetic Schuurs-Hoeijmakers syndrome (PACS1 syndrome) by T. V. Kozhanova, S. S. Zhilina, T. I. Meshcheryakova, A. D. Mikhailova, A. I. Krapivkin, N. N. Zavadenko

    Published 2024-07-01
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  3. 3
    A Clinical and Molecular Description of a Rare Case of Chromosomal Abnormality (Partial Trisomy 14q11.2-q21.1 and Partial Monosomy 21q11.2-q21.3)

    A Clinical and Molecular Description of a Rare Case of Chromosomal Abnormality (Partial Trisomy 14q11.2-q21.1 and Partial Monosomy 21q11.2-q21.3) by Grigory S. Vasilyev, Tatiana I. Meshcheryakova, Elena N. Lukash, Svetlana S. Zhylina, Ilya V. Kanivets, Alexander N. Petrin

    Published 2016-08-01
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  4. 4
    A novel X-linked immune-mediated actinopathy in a boy with anti-NMDA receptor encephalitis and variant in <i>DOCK11</i> gene

    A novel X-linked immune-mediated actinopathy in a boy with anti-NMDA receptor encephalitis and variant in <i>DOCK11</i> gene by T. V. Kozhanova, S. S. Zhylina, T. I. Meshcheryakova, A. A. Abramov, M. M. Abidova, T. S. Kaminskaya, A. I. Krapivkin, N. N. Zavadenko

    Published 2025-07-01
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  5. 5
    Nutrition as a factor of health programming (literature review)

    Nutrition as a factor of health programming (literature review) by A. A. Vyalkova, S. V. Plotnikova, L. S. Zykova, O. K. Lyubimova, L. M. Gordienko, I. V. Zorin, A. I. Meshcheryakova

    Published 2021-07-01
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  6. 6
    Clinical case of epilepsy, hearing loss and mental retardation syndrome associated with mutations in SPATA5 gene

    Clinical case of epilepsy, hearing loss and mental retardation syndrome associated with mutations in SPATA5 gene by T. V. Kozhanova, S. S. Zhilina, T. I. Meshcheryakova, E. G. Luk’yanova, K. V. Osipova, S. O. Ayvazyan, A. G. Prityko, N. N. Zavadenko

    Published 2021-04-01
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  7. 7
    Clinical case of lysosomic acid lipase deficiency – cholesterol ethers accumulation diseases

    Clinical case of lysosomic acid lipase deficiency – cholesterol ethers accumulation diseases by E. V. Savelieva, A. P. Pakhomov, A. A. Vyalkova, V. V. Tyrsin, I. V. Zorin, E. V. Azarova, A. I. Meshcheryakova

    Published 2022-10-01
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  8. 8
    <i>SEMA6B</i>-related progressive myoclonus epilepsy in a patient with Klinefelter syndrome

    <i>SEMA6B</i>-related progressive myoclonus epilepsy in a patient with Klinefelter syndrome by T. V. Kozhanova, S. S. Zhilina, T. I. Meshcheryakova, L. M. Sushko, K. V. Osipova, A. M. Mazur, S. S. Fomenko, A. I. Krapivkin, N. N. Zavadenko

    Published 2024-04-01
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  9. 9
    <i>SPTAN1</i>-associated developmental and epileptic encephalopathy

    <i>SPTAN1</i>-associated developmental and epileptic encephalopathy by T. V. Kozhanova, S. S. Zhilina, T. I. Meshcheryakova, E. G. Lukyanova, E. S. Bolshakova, S. O. Ayvazyan, K. V. Osipova, P. A. Vlasov, A. I. Krapivkin, N. N. Zavadenko

    Published 2023-09-01
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