Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Elizaveta V. Musatova"'
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:
Tatiana A. Shnaider, Anna A. Khabarova, Ksenia N. Morozova, Anastasia M. Yunusova, Sophia A. Yakovleva, Anastasia S. Chvileva, Ekaterina R. Wolf, Elena V. Kiseleva, Elena V. Grigor’eva, Viktori Y. Voinova, Maria A. Lagarkova, Ekaterina A. Pomerantseva, Elizaveta V. Musatova, Alexander V. Smirnov, Anna V. Smirnova, Diana S. Stoklitskaya, Tatiana I. Arefieva, Daria A. Larina, Tatiana V. Nikitina, Inna E. Pristyazhnyuk
Publikováno v:
Cells, Vol 12, Iss 23, p 2702 (2023)
Cohen syndrome is an autosomal recessive disorder caused by VPS13B (COH1) gene mutations. This syndrome is significantly underdiagnosed and is characterized by intellectual disability, microcephaly, autistic symptoms, hypotension, myopia, retinal dys
Externí odkaz:
https://doaj.org/article/46fae80a53d840f5ae947d70a2822115
Autor:
Ekaterina A. Gibitova, Pavel V. Dobrynin, Ekaterina A. Pomerantseva, Elizaveta V. Musatova, Anna Kostareva, Igor Evsyukov, Sergey Y. Rychkov, Olga V. Zhukova, Oxana Y. Naumova, Elena L. Grigorenko
Publikováno v:
Genes; Volume 13; Issue 5; Pages: 920
This study provides new data on the whole-exome sequencing of a cohort of children with autistic spectrum disorders (ASD) from an underexplored Russian population. Using both a cross-sectional approach involving a control cohort of the same ancestry
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2417a0a55369b66fe54a2e14a6ab0a78