Showing 1 - 9 results of 9 for search 'Tatyana A. Vasilyeva', query time: 0.02s
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Co-Occurrence of Congenital Aniridia Due to Nonsense <i>PAX6</i> Variant p.(Cys94*) and Chromosome 21 Trisomy in the Same Patient by Tatyana A. Vasilyeva, Natella V. Sukhanova, Andrey V. Marakhonov, Natalia Yu. Kuzina, Nadezhda V. Shilova, Vitaly V. Kadyshev, Sergey I. Kutsev, Rena A. Zinchenko
Published 2023-10-01
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An Unusual Presentation of Novel Missense Variant in <i>PAX6</i> Gene: NM_000280.4:c.341A>G, p.(Asn114Ser) by Tatyana A. Vasilyeva, Natella V. Sukhanova, Olga V. Khalanskaya, Andrey V. Marakhonov, Nikolai S. Prokhorov, Vitaly V. Kadyshev, Nikolay A. Skryabin, Sergey I. Kutsev, Rena A. Zinchenko
Published 2023-12-01
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Genetic Heterogeneity of X-Linked Ichthyosis in the Republic of North Ossetia–Alania, Case Series Report by Tatyana A. Vasilyeva, Andrey V. Marakhonov, Inna S. Tebieva, Vitaly V. Kadyshev, Artem O. Borovikov, Zhanna G. Markova, Alyona L. Chukhrova, Evgeny K. Ginter, Sergey I. Kutsev, Rena A. Zinchenko
Published 2023-02-01
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Epidemiology of <i>PAX6</i> Gene Pathogenic Variants and Expected Prevalence of <i>PAX6</i>-Associated Congenital Aniridia across the Russian Federation: A Nationwide Study by Tatyana A. Vasilyeva, Andrey V. Marakhonov, Anna A. Voskresenskaya, Vitaly V. Kadyshev, Natella V. Sukhanova, Marina E. Minzhenkova, Nadezhda V. Shilova, Alla A. Latyshova, Evgeny K. Ginter, Sergey I. Kutsev, Rena A. Zinchenko
Published 2023-11-01
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Complex Chromosomal Rearrangement Involving Chromosomes 10 and 11, Accompanied by Two Adjacent 11p14.1p13 and 11p13p12 Deletions, Identified in a Patient with WAGR Syndrome by Andrey V. Marakhonov, Tatyana A. Vasilyeva, Marina E. Minzhenkova, Natella V. Sukhanova, Peter A. Sparber, Natalya A. Andreeva, Margarita V. Teleshova, Fatima K.-M. Baybagisova, Nadezhda V. Shilova, Sergey I. Kutsev, Rena A. Zinchenko
Published 2023-11-01
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Analysis of <i>CFTR</i> Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients by Nika V. Petrova, Nataliya Y. Kashirskaya, Tatyana A. Vasilyeva, Elena I. Kondratyeva, Elena K. Zhekaite, Anna Y. Voronkova, Victoria D. Sherman, Varvara A. Galkina, Eugeny K. Ginter, Sergey I. Kutsev, Andrey V. Marakhonov, Rena A. Zinchenko
Published 2020-05-01
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Clinical Presentation of the c.3844T>C (p.Trp1282Arg, W1282R) Variant in Russian Cystic Fibrosis Patients by Nika V. Petrova, Nataliya Y. Kashirskaya, Stanislav A. Krasovskiy, Elena L. Amelina, Elena I. Kondratyeva, Andrey V. Marakhonov, Tatyana A. Vasilyeva, Anna Y. Voronkova, Victoria D. Sherman, Evgeny K. Ginter, Sergey I. Kutsev, Rena A. Zinchenko
Published 2020-09-01
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