New genetic variant in the SERPINC1 gene: hereditary Antithrombin deficiency case report, familial thrombosis and considerations on genetic counseling

por Polyak, Margarita E., Zaklyazminskaya, Elena V.
Publicado 2020

Different Phenotypes of Sarcomeric MyBPC3-Cardiomyopathy in the Same Family: Hypertrophic, Left Ventricular Noncompaction and Restrictive Phenotypes (in Association with Sarcoidosi...

por Blagova, Olga, Pavlenko, Ekaterina, Sedov, Vsevolod, Kogan, Evgeniya, Polyak, Margarita, Zaklyazminskaya, Elena, Lutokhina, Yulia
Publicado 2022

Variable Clinical Appearance of the Kir2.1 Rare Variants in Russian Patients with Long QT Syndrome

por Zaklyazminskaya, Elena, Polyak, Margarita, Shestak, Anna, Sadekova, Mariam, Komoliatova, Vera, Kiseleva, Irina, Makarov, Leonid, Podolyak, Dmitriy, Glukhov, Grigory, Zhang, Han, Abramochkin, Denis, Sokolova, Olga S.
Publicado 2022

De Novo Asp219Val Mutation in Cardiac Tropomyosin Associated with Hypertrophic Cardiomyopathy

por Tsaturyan, Andrey K., Zaklyazminskaya, Elena V., Polyak, Margarita E., Kopylova, Galina V., Shchepkin, Daniil V., Kochurova, Anastasia M., Gonchar, Anastasiia D., Kleymenov, Sergey Y., Koubasova, Natalia A., Bershitsky, Sergey Y., Matyushenko, Alexander M., Levitsky, Dmitrii I.
Publicado 2022