Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Tatiana A. Shnaider"'
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:
Shnaider, Tatiana A.1 (AUTHOR) shnayder@bionet.nsc.ru, Khabarova, Anna A.1 (AUTHOR), Morozova, Ksenia N.1,2 (AUTHOR), Yunusova, Anastasia M.1 (AUTHOR), Yakovleva, Sophia A.2 (AUTHOR), Chvileva, Anastasia S.2 (AUTHOR), Wolf, Ekaterina R.2 (AUTHOR), Kiseleva, Elena V.1 (AUTHOR), Grigor'eva, Elena V.1 (AUTHOR), Voinova, Viktori Y.3,4 (AUTHOR), Lagarkova, Maria A.5 (AUTHOR), Pomerantseva, Ekaterina A.6 (AUTHOR), Musatova, Elizaveta V.6 (AUTHOR), Smirnov, Alexander V.1 (AUTHOR), Smirnova, Anna V.3 (AUTHOR), Stoklitskaya, Diana S.6 (AUTHOR), Arefieva, Tatiana I.7 (AUTHOR), Larina, Daria A.3 (AUTHOR), Nikitina, Tatiana V.8 (AUTHOR), Pristyazhnyuk, Inna E.1 (AUTHOR) iprist@bionet.nsc.ru
Publikováno v:
Cells (2073-4409). Dec2023, Vol. 12 Issue 23, p2702. 24p.
Publikováno v:
Quality of Life Research. Oct2016 Supplement, Vol. 25, p1-196. 196p. 15 Diagrams, 42 Charts, 39 Graphs.
Publikováno v:
Stem Cell Week; 12/15/2023, p308-308, 1p