Showing 1 - 19 results of 19 for search 'Olga Shchagina', query time: 0.04s
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The First Russian Patient with Native American Myopathy by Aysylu Murtazina, Nina Demina, Polina Chausova, Olga Shchagina, Artem Borovikov, Elena Dadali
Published 2022-02-01
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Functional Characterization of Two Novel Intron 4 <i>SERPING1</i> Gene Splice Site Pathogenic Variants in Families with Hereditary Angioedema by Olga Shchagina, Elena Gracheva, Alyona Chukhrova, Elena Bliznets, Igor Bychkov, Sergey Kutsev, Aleksander Polyakov
Published 2023-12-01
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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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Case report: Unusual episodic myopathy in a patient with novel homozygous deletion of first coding exon of MICU1 gene by Margarita Sharova, Mikhail Skoblov, Elena Dadali, Nina Demina, Olga Shchagina, Fedor Konovalov, Maria Ampleeva, Inna Sharkova, Sergey Kutsev
Published 2022-11-01
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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 2023-05-01
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Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4 by Tatiana Markova, Vladimir Kenis, Evgenii Melchenko, Aynur Alieva, Tatiana Nagornova, Anna Orlova, Natalya Ogorodova, Olga Shchagina, Alexander Polyakov, Elena Dadali, Sergey Kutsev
Published 2022-08-01
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Targeted NGS in Diagnostics of Genodermatosis Characterized by the Epidermolysis Bullosa Symptom Complex in 268 Russian Children by Kirill Savostyanov, Nikolay Murashkin, Alexander Pushkov, Ilya Zhanin, Elkhan Suleymanov, Mariya Akhkiamova, Olga Shchagina, Elena Balanovska, Roman Epishev, Aleksander Polyakov, Andrey Fisenko
Published 2022-11-01
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Generation of induced pluripotent stem cell line (RCMGi012-A) from fibroblasts of patient with mucopolysaccharidosis type VI by Ekaterina Kondrateva, Olga Grigorieva, Irina Panchuk, Igor Bychkov, Ekaterina Zakharova, Vyacheslav Tabakov, Victoria Pozhitnova, Ekaterina Voronina, Olga Shchagina, Alexander Lavrov, Svetlana Smirnikhina, Sergey Kutsev
Published 2023-12-01
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Pathogenic Variants and Genotypes of the <i>CFTR</i> Gene in Russian Men with Cystic Fibrosis and CBAVD Syndrome by Vyacheslav Chernykh, Stanislav Krasovsky, Olga Solovova, Tagui Adyan, Anna Stepanova, Ekaterina Marnat, Maria Shtaut, Anna Sedova, Tatyana Sorokina, Tatyana Beskorovainaya, Elena Kondratyeva, Olga Shchagina, Aleksandr Polyakov
Published 2023-11-01
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Clinical and Genetic Characteristics of Calvarial Doughnut Lesions with Bone Fragility in Three Families with a Reccurent <i>SGMS2</i> Gene Variant by Elena Merkuryeva, Tatiana Markova, Anton Tyurin, Diana Valeeva, Vladimir Kenis, Maria Sumina, Igor Sorokin, Olga Shchagina, Mikhail Skoblov, Maria Nefedova, Rita Khusainova, Ekaterina Zakharova, Elena Dadali, Sergey Kutsev
Published 2023-04-01
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Complex Diagnostics of Non-Specific Intellectual Developmental Disorder by Olga Levchenko, Elena Dadali, Ludmila Bessonova, Nina Demina, Galina Rudenskaya, Galina Matyushchenko, Tatiana Markova, Inga Anisimova, Natalia Semenova, Olga Shchagina, Oxana Ryzhkova, Rena Zinchenko, Varvara Galkina, Victoria Voinova, Sabina Nagieva, Alexander Lavrov
Published 2022-07-01
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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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