Inna Sharkova - Research Centre for Medical Genetics

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论文共 15 篇作者统计合作学者相似作者

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Genetic Spectrum of Sarcoglycanopathies in a Cohort of Russian Patients

Maria Bulakh, Daria Polyakova,Elena Dadali,Galina Rudenskaya,Inna Sharkova,Tatiana Markova,Aysylu Murtazina,Nina Demina, Sergei Kurbatov, Natalia Nikitina, Vasilisa Udalova,Aleksander Polyakov,Oxana Ryzhkova

GENE (2024)

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Spinal Muscular Atrophy 5q. Clinical and Genetic Characteristics, Molecular Genetic Diagnosis and Etiopathogenetic Treatment. 2nd Ed

Sergey Kucev,Sergey Nikitin,Elena Dadali, V. Izhevskaya,Inna Sharkova,Aysylu Murtazina, Evgeniya Mel'nik, Andrey Marahonov,Ol'ga Pesneva, Arseniy Gayduk, Il'ya Komarov,Yan Vlasov

crossref（2024）

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Case Report: Exploring the Clinical Spectrum of LGMD R27: Insights from a Case Study with Homozygous Pathogenic Variant in the JAG2 Gene

Sergey Nikitin, Evgeniya Melnik,Inna Sharkova,Aysylu Murtazina,Olga Shchagina, Victoriia Zabnenkova, Vadim Tsargush, Elena Dadali, Sergey Kutsev

Frontiers in Pediatrics (2024)

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Identification of a Novel Indel Variant in the DARS2 Gene in Russian Patients with Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation

Fatima M. Bostanova,Polina G. Tsygankova, Elena A. Larshina, Ilya O. Nagornov, Yulia V. Evseeva, Irina L. Krutikhina, Marina E. Dzhentemirova, Marina N. Kashlakova,Marina S. Petukhova,Inna V. Sharkova,Ekaterina Y. Zakharova

Genesno. 5 (2024): 615

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Mild Phenotype of CHAT-associated Congenital Myasthenic Syndrome: Case Series

Aysylu Murtazina,Artem Borovikov,Andrey Marakhonov,Artem Sharkov,Inna Sharkova, Alena Mirzoyan, Sviatlana Kulikova, Ralina Ganieva,Viktoriia Zabnenkova,Oksana Ryzhkova,Sergey Nikitin,Elena Dadali,Sergey Kutsev

FRONTIERS IN PEDIATRICS (2024)

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TRA2B Gene Splice Variant Linked to Seizures and Neurodevelopmental Delay: A Second Case Study

Olga Shatokhina,Valeriia Kovalskaia,Peter Sparber,Inna Sharkova,Irina Mishina, Vera Kuznetsova,Oxana Ryzhkova

International Journal of Molecular Sciencesno. 21 (2023): 15572-15572

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Mutational spectrum and clinical features of GNE myopathy in Russia

Aysylu Murtazina,Sergey Nikitin,Galina Rudenskaya,Inna Sharkova,Olga Shchagina,Alena Chukhrova,Oksana Ryzhkova,Olga Shatokhina,Anna Orlova,Artem Borovikov,Ilya Kanivets,Sergey Korostelev,Elena Dadali

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 511-511

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The possibilities of artificial intelligence for the assessment of genetic predisposition factors and the diagnosis of colorectal cancer

Igor Ugarov,Vyacheslav Chernykh,Inna Sharkova, Nikolay Ivanov, Vladimir Maslennikov, Dmitriy Ostapenko

EUROPEAN JOURNAL OF HUMAN GENETICS（2022）

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Case Report: Unusual Episodic Myopathy in a Patient with Novel Homozygous Deletion of First Coding Exon of MICU1 Gene

Margarita Sharova,Mikhail Skoblov,Elena Dadali,Nina Demina,Olga Shchagina,Fedor Konovalov,Maria Ampleeva,Inna Sharkova,Sergey Kutsev

Frontiers in Neurology（2022）

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Genetic and Clinical Spectrum of GNE Myopathy in Russia

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

GENESno. 11 (2022): 1991-1991

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