Frequency distribution of polymorphisms of CYP2C19, CYP2C9, VKORC1 and SLCO1B1 genes in the Yakut population

por Vasilyev, Filipp Filippovich, Danilova, Diana Aleksandrovna, Kaimonov, Vladimir Sergeevich, Chertovskih, Yana Valerievna, Maksimova, Nadezda Romanovna
Publicado 2016

Low mutation rate in the TTN gene in paediatric patients with dilated cardiomyopathy – a pilot study

por Zaklyazminskaya, Elena, Mikhailov, Vadim, Bukaeva, Anna, Kotlukova, Natalia, Povolotskaya, Inna, Kaimonov, Vladimir, Dombrovskaya, Anna, Dzemeshkevich, Sergey
Publicado 2019

Complex Transposon Insertion as a Novel Cause of Pompe Disease

por Bychkov, Igor, Baydakova, Galina, Filatova, Alexandra, Migiaev, Ochir, Marakhonov, Andrey, Pechatnikova, Nataliya, Pomerantseva, Ekaterina, Konovalov, Fedor, Ampleeva, Maria, Kaimonov, Vladimir, Skoblov, Mikhail, Zakharova, Ekaterina
Publicado 2021

Complex Multisystem Phenotype With Immunodeficiency Associated With NBAS Mutations: Reports of Three Patients and Review of the Literature

por Khoreva, Anna, Pomerantseva, Ekaterina, Belova, Natalia, Povolotskaya, Inna, Konovalov, Fedor, Kaimonov, Vladimir, Gavrina, Alena, Zimin, Sergey, Pershin, Dmitrii, Davydova, Nataliia, Burlakov, Vasilii, Viktorova, Ekaterina, Roppelt, Anna, Kalinina, Ekaterina, Novichkova, Galina, Shcherbina, Anna
Publicado 2020

Genetic screening of an endemic mutation in the DYSF gene in an isolated, mountainous population in the Republic of Dagestan

por Bardakov, Sergey N., Deev, Roman V., Isaev, Аrtur А., Khromov‐Borisov, Nikita N., Kopylov, Evgeniy D., Savchuk, Мaria R., Pushkin, Maxim S., Presnyakov, Evgeniy V., Magomedova, Raisat M., Achmedova, Patimat G., Umakhanova, Zoya R., Kaimonov, Vladimir S., Musatova, Elizaveta V., Blagodatskikh, Konstantin А., Tveleneva, Aleksandra А., Sofronova, Yana V., Yakovlev, Ivan A.
Publicado 2023