Hasil Pencarian - Alexandra Filatova

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  1. 1
    The role of long non-coding RNAs in the pathogenesis of hereditary diseases

    The role of long non-coding RNAs in the pathogenesis of hereditary diseases oleh Peter Sparber, Alexandra Filatova, Mira Khantemirova, Mikhail Skoblov

    Diterbitkan 2019-03-01
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  2. 2
    Homozygous deep intronic variant in SNX14 cause autosomal recessive Spinocerebellar ataxia 20: a case report

    Homozygous deep intronic variant in SNX14 cause autosomal recessive Spinocerebellar ataxia 20: a case report oleh Olga Levchenko, Alexandra Filatova, Irina Mishina, Aleksey Antonenko, Mikhail Skoblov

    Diterbitkan 2023-07-01
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  3. 3
    Investigation of LINC00493/SMIM26 Gene Suggests Its Dual Functioning at mRNA and Protein Level

    Investigation of LINC00493/SMIM26 Gene Suggests Its Dual Functioning at mRNA and Protein Level oleh Daria Konina, Peter Sparber, Iuliia Viakhireva, Alexandra Filatova, Mikhail Skoblov

    Diterbitkan 2021-08-01
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  4. 4
    Evaluation of Pathogenicity and Causativity of Variants in the <i>MPZ</i> and <i>SH3TC2</i> Genes in a Family Case of Hereditary Peripheral Neuropathy

    Evaluation of Pathogenicity and Causativity of Variants in the <i>MPZ</i> and <i>SH3TC2</i> Genes in a Family Case of Hereditary Peripheral Neuropathy oleh Olga Shchagina, Mariya Orlova, Aisylu Murtazina, Alexandra Filatova, Mikhail Skoblov, Elena Dadali

    Diterbitkan 2023-06-01
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  5. 5
    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 oleh Peter Sparber, Margarita Sharova, Alexandra Filatova, Olga Shchagina, Evgeniya Ivanova, Elena Dadali, Mikhail Skoblov

    Diterbitkan 2020-10-01
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  6. 6
    Functional Analysis of the <i>PCCA</i> and <i>PCCB</i> Gene Variants Predicted to Affect Splicing

    Functional Analysis of the <i>PCCA</i> and <i>PCCB</i> Gene Variants Predicted to Affect Splicing oleh Igor Bychkov, Artur Galushkin, Alexandra Filatova, Andrey Nekrasov, Marina Kurkina, Galina Baydakova, Alexandra Ilyushkina, Mikhail Skoblov, Ekaterina Zakharova

    Diterbitkan 2021-04-01
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  7. 7
    CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report

    CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report oleh Svetlana Papizh, Victoria Serzhanova, Alexandra Filatova, Mikhail Skoblov, Vyacheslav Tabakov, Lambert van den Heuvel, Elena Levtchenko, Larisa Prikhodina

    Diterbitkan 2019-10-01
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  8. 8
    Publisher Correction: Processed pseudogene insertion in GLB1 causes Morquio B disease by altering intronic splicing regulatory landscape

    Publisher Correction: Processed pseudogene insertion in GLB1 causes Morquio B disease by altering intronic splicing regulatory landscape oleh Igor Bychkov, Antonina Kuznetsova, Galina Baydakova, Leonid Gorobets, Vladimir Kenis, Alena Dimitrieva, Alexandra Filatova, Vyacheslav Tabakov, Mikhail Skoblov, Ekaterina Zakharova

    Diterbitkan 2022-11-01
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  9. 9
    Processed pseudogene insertion in GLB1 causes Morquio B disease by altering intronic splicing regulatory landscape

    Processed pseudogene insertion in GLB1 causes Morquio B disease by altering intronic splicing regulatory landscape oleh Igor Bychkov, Antonina Kuznetsova, Galina Baydakova, Leonid Gorobets, Vladimir Kenis, Alena Dimitrieva, Alexandra Filatova, Vyacheslav Tabakov, Mikhail Skoblov, Ekaterina Zakharova

    Diterbitkan 2022-07-01
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  10. 10
    Complex Transposon Insertion as a Novel Cause of Pompe Disease

    Complex Transposon Insertion as a Novel Cause of Pompe Disease oleh Igor Bychkov, Galina Baydakova, Alexandra Filatova, Ochir Migiaev, Andrey Marakhonov, Nataliya Pechatnikova, Ekaterina Pomerantseva, Fedor Konovalov, Maria Ampleeva, Vladimir Kaimonov, Mikhail Skoblov, Ekaterina Zakharova

    Diterbitkan 2021-10-01
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  11. 11
    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 oleh 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

    Diterbitkan 2024-08-01
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  12. 12
    Clinical and Functional Characteristics of the E92K <i>CFTR</i> Gene Variant in the Russian and Turkish Population of People with Cystic Fibrosis

    Clinical and Functional Characteristics of the E92K <i>CFTR</i> Gene Variant in the Russian and Turkish Population of People with Cystic Fibrosis oleh Elena Kondratyeva, Yuliya Melyanovskaya, Nataliya Bulatenko, Ksenia Davydenko, Alexandra Filatova, Anna Efremova, Mikhail Skoblov, Tatiana Bukharova, Viktoriya Sherman, Anna Voronkova, Elena Zhekaite, Stanislav Krasovskiy, Elena Amelina, Nika Petrova, Alexander Polyakov, Tagui Adyan, Marina Starinova, Maria Krasnova, Andrey Vasilyev, Oleg Makhnach, Rena Zinchenko, Sergey Kutsev, Yasemin Gokdemir, Bülent Karadag, Dmitry Goldshtein

    Diterbitkan 2023-03-01
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