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

Connect to this object online.

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

Connect to this object online.

Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders by 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

Connect to this object online.

Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report by 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

Connect to this object online.

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

Connect to this object online.