Hakutulokset - Rena A. Zinchenko

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

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Evaluation of orphan diseases global burden Tekijä Ekaterina V Makarova, Ivan S Krysanov, Tatiana P Valilyeva, Mikhail D Vasiliev, Rena A Zinchenko

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Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders Tekijä Andrey V. Marakhonov, Fedor A. Konovalov, Amin Kh. Makaov, Tatyana A. Vasilyeva, Vitaly V. Kadyshev, Varvara A. Galkina, Elena L. Dadali, Sergey I. Kutsev, Rena A. Zinchenko

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Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report Tekijä Andrey V. Marakhonov, Irina A. Mishina, Vitaly V. Kadyshev, Svetlana A. Repina, Maria F. Shurygina, Olga A. Shchagina, Natalya N. Vasserman, Tatyana A. Vasilyeva, 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 Tekijä 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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