Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Vladimir S. Kaimonov"'
Autor:
Sergey N. Bardakov, Roman V. Deev, Аrtur А. Isaev, Nikita N. Khromov‐Borisov, Evgeniy D. Kopylov, Мaria R. Savchuk, Maxim S. Pushkin, Evgeniy V. Presnyakov, Raisat M. Magomedova, Patimat G. Achmedova, Zoya R. Umakhanova, Vladimir S. Kaimonov, Elizaveta V. Musatova, Konstantin А. Blagodatskikh, Aleksandra А. Tveleneva, Yana V. Sofronova, Ivan A. Yakovlev
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 10, Pp n/a-n/a (2023)
Abstract Background Dysferlinopathy has a high prevalence in relatively isolated ethnic groups where consanguineous marriages are characteristic and/or the founder effect exists. However, the frequency of endemic mutations in most isolates has not be
Externí odkaz:
https://doaj.org/article/293d70115cc14046b98306c7af3f8ccc
Autor:
Yury A. Barbitoff, Darya N. Khmelkova, Ekaterina A. Pomerantseva, Aleksandr V. Slepchenkov, Nikita A. Zubashenko, Irina V. Mironova, Vladimir S. Kaimonov, Dmitrii E. Polev, Victoria V. Tsay, Andrey S. Glotov, Mikhail V. Aseev, Sergey G. Scherbak, Oleg S. Glotov, Arthur A. Isaev, Alexander V. Predeus
Population allele frequency is crucially important for accurate interpretation of known and novel variants in medical genetics. Recently, several large allele frequency databases, such as Genome Aggregation Database (gnomAD), have been created to ser
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fdedb76c49d01fc3054a9c8df11bfccc
https://doi.org/10.1101/2021.11.02.21265801
https://doi.org/10.1101/2021.11.02.21265801
Autor:
Diana Aleksandrovna Danilova, N. R. Maksimova, Yana Valerievna Chertovskih, Filipp Filippovich Vasilyev, Vladimir S. Kaimonov
Publikováno v:
Current Pharmacogenomics and Personalized Medicine. 14:50-55
Autor:
Nadezda R, Maksimova, Elizaveta E, Gurinova, Aitalina L, Sukhomyasova, Anastasia L, Danilova, Vladimir S, Kaimonov, Mira T, Savvina, Aleksandra E, Yakovleva, Elena I, Alekseeva
Publikováno v:
Wiadomosci lekarskie (Warsaw, Poland : 1960). 69(2 Pt 2)
Tyrosinemia type 1 (HT1) (OM IM 276700) is an inborn error of tyrosine catabolism caused be fumarylacetoacetate hedralase deficiency (FAH). In tyrosinemia type I, dietary therapy and nitisinone (Orfandin®), liver transplantation are effective .We pr