Characteristics of the L138ins (p.Leu138dup) mutation in Russian cystic fibrosis patients by Nika V Petrova, Nataliya Y Kashirskaya, Tatyana A Vasilyeva, Elenai I Kondratyeva, Andrey V Marakhonov, Milan Macek Jr, Evgeny K Ginter, Sergey I Kutsev, Rena A Zinchenko

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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

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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

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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

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