Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Ekaterina A. Pomerantseva"'
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
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:
Ekaterina A. Pomerantseva, Eugene Goodilin, Tatyana Kulova, Alexander Skundin, Yurii Tretyakov
Publikováno v:
ECS Meeting Abstracts. :163-163
not Available.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a6e85bea2d4b37d7f53f573288328bf9
https://doi.org/10.1149/ma2007-02/3/163
https://doi.org/10.1149/ma2007-02/3/163