Showing 1 - 3 results of 3 for search 'Olga Shchagina', query time: 0.02s Refine Results
  1. 1
    Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report

    Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report by Peter Sparber, Margarita Sharova, Alexandra Filatova, Olga Shchagina, Evgeniya Ivanova, Elena Dadali, Mikhail Skoblov

    Published 2020
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  2. 2
    Case Report: Exploring the clinical spectrum of LGMD R27: insights from a case study with homozygous pathogenic variant in the JAG2 gene

    Case Report: Exploring the clinical spectrum of LGMD R27: insights from a case study with homozygous pathogenic variant in the JAG2 gene by Sergey Nikitin, Evgeniya Melnik, Inna Sharkova, Aysylu Murtazina, Olga Shchagina, Victoriia Zabnenkova, Vadim Tsargush, Elena Dadali, Sergey Kutsev

    Published 2024
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  3. 3
    Pilot Program of Newborn Screening for 5q Spinal Muscular Atrophy in the Russian Federation

    Pilot Program of Newborn Screening for 5q Spinal Muscular Atrophy in the Russian Federation by Kristina Mikhalchuk, Olga Shchagina, Alena Chukhrova, Viktoria Zabnenkova, Polina Chausova, Nina Ryadninskaya, Dmitry Vlodavets, Sergei I. Kutsev, Alexander Polyakov

    Published 2023
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