A novel mutation in the PEX26 gene in a family from Dagestan with members affected by Zellweger spectrum disorder

by Natalia A. Semenova, Marina V. Kurkina, Andrey V. Marakhonov, Elena L. Dadali, Natalia N. Taran, Tatyana V. Strokova
Published 2021-06-01

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
Published 2018-02-01

Pathomechanisms of a CLCN1 Mutation Found in a Russian Family Suffering From Becker's Myotonia

by Concetta Altamura, Evgeniya A. Ivanova, Paola Imbrici, Elena Conte, Giulia Maria Camerino, Elena L. Dadali, Alexander V. Polyakov, Sergei Aleksandrovich Kurbatov, Francesco Girolamo, Maria Rosaria Carratù, Jean-François Desaphy
Published 2020-09-01

Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic

by Rena A. Zinchenko, Amin Kh. Makaov, Andrey V. Marakhonov, Varvara A. Galkina, Vitaly V. Kadyshev, Galina I. El’chinova, Elena L. Dadali, Lyudmila K. Mikhailova, Nika V. Petrova, Nina E. Petrina, Tatyana A. Vasilyeva, Polina Gundorova, Alexander V. Polyakov, Oksana Y. Alexandrova, Sergey I. Kutsev, Eugeny K. Ginter
Published 2020-01-01