Clinical Efficacy and Safety of Ivacaftor/Lumacaftor Combination in Patients with Cystic Fibrosis: International Studies Review by Nataliya Yu. Kashirskaya, Nika V. Petrova, Rena A. Zinchenko

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Genetic Variant c.245A>G (p.Asn82Ser) in <i>GIPC3</i> Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population by Nika V. Petrova, Andrey V. Marakhonov, Natalia V. Balinova, Anna V. Abrukova, Fedor A. Konovalov, Sergey I. Kutsev, Rena A. Zinchenko

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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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High frequency of complex CFTR alleles associated with c.1521_1523delCTT (F508del) in Russian cystic fibrosis patients by Nika V. Petrova, Nataliya Y. Kashirskaya, Tatyana A. Vasilyeva, Natalia V. Balinova, Andrey V. Marakhonov, Elena I. Kondratyeva, Elena K. Zhekaite, Anna Y. Voronkova, Sergey I. Kutsev, Rena A. Zinchenko

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Corrigendum: Epidemiology of rare hereditary diseases in the European part of Russia: Point and cumulative prevalence by Rena A. Zinchenko, Rena A. Zinchenko, Eugeny K. Ginter, Andrey V. Marakhonov, Nika V. Petrova, Vitaly V. Kadyshev, Tatyana P. Vasilyeva, Oksana U. Alexandrova, Alexander V. Polyakov, Sergey I. Kutsev

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Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence by Rena A. Zinchenko, Rena A. Zinchenko, Eugeny K. Ginter, Andrey V. Marakhonov, Nika V. Petrova, Vitaly V. Kadyshev, Tatyana P. Vasilyeva, Oksana U. Alexandrova, Alexander V. Polyakov, Sergey I. Kutsev

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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

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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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A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region by Tatyana A. Vasilyeva, Andrey V. Marakhonov, Marina E. Minzhenkova, Zhanna G. Markova, Nika V. Petrova, Natella V. Sukhanova, Philipp A. Koshkin, Denis V. Pyankov, Ilya V. Kanivets, Sergey A. Korostelev, Irina A. Krynskaya, Nadezhda V. Shilova, Sergey I. Kutsev, Vitaly V. Kadyshev, Rena A. Zinchenko

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Vitamin D Status in Russian Children and Adolescents: Contribution of Genetic and Exogenous Factors by Elena I. Kondratyeva, Irina N. Zakharova, Natalya A. Ilenkova, Leonid Ya. Klimov, Nika V. Petrova, Aisa E. Zodbinova, Elena K. Zhekaite, Vladimir V. Chikunov, Svetlana V. Dolbnya, Anna Yu. Voronkova, Victoria D. Sherman, Elena V. Loshkova, Yuliya L. Melyanovskaya, Roman M. Budzinskiy, Victoria A. Kuryaninova, Sergey I. Kutsev

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Vitamin D Status Among Children With Juvenile Idiopathic Arthritis: A Multicenter Prospective, Non-randomized, Comparative Study by Elena I. Kondratyeva, Elena I. Kondratyeva, Nuriniso D. Odinaeva, Leonid Ya Klimov, Nadeshda S. Podchernyaeva, Natalya I. Ilenkova, Svetlana V. Dolbnya, Elena K. Zhekaite, Elena K. Zhekaite, Victoria A. Kuryaninova, Yuliya V. Kotova, Margarita I. Tikhaya, Elena P. Shitkovskaya, Liubov V. Bychina, Tamara G. Drepa, Aisa E. Zodbinova, Yuliya L. Melyanovskaya, Yuliya L. Melyanovskaya, Nika V. Petrova, Elena V. Loshkova, Sergei I. Kutsev

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