Showing 1 - 7 results of 7 for search 'Aysylu Murtazina', query time: 0.03s Refine Results
  1. 1
    Genetic Landscape of SH3TC2 variants in Russian patients with Charcot–Marie–Tooth disease

    Genetic Landscape of SH3TC2 variants in Russian patients with Charcot–Marie–Tooth disease by Olga Shchagina, Aysylu Murtazina, Polina Chausova, Mariya Orlova, Elena Dadali, Sergei Kurbatov, Sergei Kurbatov, Sergey Kutsev, Aleksander Polyakov

    Published 2024-06-01
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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 2024-11-01
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  3. 3
    A Novel Homozygous Variant in the COMP Gene Causing a Multiple Epiphyseal Dysplasia 1 with Autosomal Recessive Inheritance

    A Novel Homozygous Variant in the COMP Gene Causing a Multiple Epiphyseal Dysplasia 1 with Autosomal Recessive Inheritance by Tatiana Markova, Aysylu Murtazina, Vladimir Kenis, Evgenii Melchenko, Maria Ampleeva, Tatiana Nagornova, Aynur Alieva, Elena Dadali, Sergey Kutsev

    Published 2022-06-01
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  4. 4
    The frequent variant A57F in the GNE gene in patients from Russia has Finno-Ugric Mari origin

    The frequent variant A57F in the GNE gene in patients from Russia has Finno-Ugric Mari origin by Dmitrii Subbotin, Sofya Ionova, Andrey Marakhonov, Elena Saifullina, Artem Borovikov, Leila Akhmadeeva, Polina Chausova, Oksana Ryzhkova, Rena Zinchenko, Sergey Kutsev, Aysylu Murtazina

    Published 2024-12-01
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  5. 5
    Asymmetric scapuloperoneal phenotype of MATR3-related distal myopathy: case series

    Asymmetric scapuloperoneal phenotype of MATR3-related distal myopathy: case series by Aysylu Murtazina, Dmitrii Subbotin, Anna Kuchina, Olga Gilvanova, Daniil Degterev, Olga Shchagina, Tatiana Cherevatova, Maria Bulakh, Darya Sherstyukova, Oksana Ryzhkova, Olga Kurushina, Mikhail Skoblov, Artem Borovikov, Sergey Kutsev

    Published 2024-08-01
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  6. 6
    Mild phenotype of CHAT-associated congenital myasthenic syndrome: case series

    Mild phenotype of CHAT-associated congenital myasthenic syndrome: case series by Aysylu Murtazina, Artem Borovikov, Andrey Marakhonov, Artem Sharkov, Artem Sharkov, Inna Sharkova, Alena Mirzoyan, Sviatlana Kulikova, Ralina Ganieva, Viktoriia Zabnenkova, Oksana Ryzhkova, Sergey Nikitin, Elena Dadali, Sergey Kutsev

    Published 2024-01-01
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  7. 7
    Cases report: Mosaic structural variants of the EXT1 gene in previously genetically unconfirmed multiple osteochondromas

    Cases report: Mosaic structural variants of the EXT1 gene in previously genetically unconfirmed multiple osteochondromas by Artem Borovikov, Andrey Marakhonov, Aysylu Murtazina, Kseniya Davydenko, Alexandra Filatova, Nailya Galeeva, Varvara Kadnikova, Natalya Ogorodova, Daria Gorodilova, Ilya Kanivets, Ilya Kanivets, Denis Pyankov, Konstantin Zherdev, Konstantin Zherdev, Aleksandr Petel’guzov, Pavel Zubkov, Alexander Polyakov, Olga Shchagina, Mikhail Skoblov

    Published 2024-08-01
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