検索結果 - Rostislav Skitchenko
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Case report: A case study of variant calling pipeline selection effect on the molecular diagnostics outcome 著者: Rostislav Skitchenko, Rostislav Skitchenko, Sergey Smirnov, Mikhail Krapivin, Anna Smirnova, Mykyta Artomov, Mykyta Artomov, Alexander Loboda, Alexander Loboda, Yulia Dinikina
出版年 Frontiers in Oncology (2024-10-01)全文の入手
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Characterization of pathogenic genetic variants in Russian patients with primary ciliary dyskinesia using gene panel sequencing and transcript analysis 著者: Anna Zlotina, Svetlana Barashkova, Sergey Zhuk, Rostislav Skitchenko, Dmitrii Usoltsev, Polina Sokolnikova, Mykyta Artomov, Svetlana Alekseenko, Tatiana Simanova, Maria Goloborodko, Olga Berleva, Anna Kostareva
出版年 Orphanet Journal of Rare Diseases (2024-08-01)全文の入手
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3
The Role of NOTCH Pathway Genes in the Inherited Susceptibility to Aortic Stenosis 著者: Olga Irtyuga, Rostislav Skitchenko, Mary Babakekhyan, Dmitrii Usoltsev, Svetlana Tarnovskaya, Anna Malashicheva, Yulya Fomicheva, Oksana Rotar, Olga Moiseeva, Ulyana Shadrina, Mykyta Artomov, Anna Kostareva, Evgeny Shlyakhto
出版年 Journal of Cardiovascular Development and Disease (2024-07-01)全文の入手
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Complex trait susceptibilities and population diversity in a sample of 4,145 Russians 著者: Dmitrii Usoltsev, Nikita Kolosov, Oxana Rotar, Alexander Loboda, Maria Boyarinova, Ekaterina Moguchaya, Ekaterina Kolesova, Anastasia Erina, Kristina Tolkunova, Valeriia Rezapova, Ivan Molotkov, Olesya Melnik, Olga Freylikhman, Nadezhda Paskar, Asiiat Alieva, Elena Baranova, Elena Bazhenova, Olga Beliaeva, Elena Vasilyeva, Sofia Kibkalo, Rostislav Skitchenko, Alina Babenko, Alexey Sergushichev, Alena Dushina, Ekaterina Lopina, Irina Basyrova, Roman Libis, Dmitrii Duplyakov, Natalya Cherepanova, Kati Donner, Paivi Laiho, Anna Kostareva, Alexandra Konradi, Evgeny Shlyakhto, Aarno Palotie, Mark J. Daly, Mykyta Artomov
出版年 Nature Communications (2024-07-01)全文の入手
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