Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Sasidhar Pasupuleti"'
Autor:
Blake Vuocolo, Ryan German, Carlos Bacino, Chaya Murali, Seema Lalani, Stephanie Baskin, Elizabeth Roeder, Carrie Schmid, Scott McLean, Rebecca Littlejohn, Olivia Juarez, Melissa Stuebben, Liesbeth Vossaert, Nichole Owen, Christine Eng, Pengfei Liu, Zhandong Liu, Dongxue Mao, Seon Young Kim, Sasidhar Pasupuleti, Shinya Yamamoto, Hugo Bellen, Michael Wangler
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101394- (2024)
Externí odkaz:
https://doaj.org/article/5dca2f1197f241059f8b41cb53e86b74
Autor:
Muharrem Ak, Bernhard Suter, Zekeriya Akturk, Holly Harris, Kristina Bowyer, Laurence Mignon, Sasidhar Pasupuleti, Daniel G. Glaze, Davut Pehlivan
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 8, Pp n/a-n/a (2022)
Abstract Background MECP2 Duplication Syndrome (MDS), resulting from the duplication of Xq28 region, including MECP2, is a rare disorder with a nascent understanding in clinical features and severity. Studies using antisense oligonucleotides revealed
Externí odkaz:
https://doaj.org/article/cfd3a8b86f9c45929b4b5d4d74d11ba2
Autor:
Muharrem Ak, Bernhard Suter, Zekeriya Akturk, Holly Harris, Kristina Bowyer, Laurence Mignon, Sasidhar Pasupuleti, Daniel G. Glaze, Davut Pehlivan
Publikováno v:
Molecular Genetics & Genomic Medicine. 10
MECP2 Duplication Syndrome (MDS), resulting from the duplication of Xq28 region, including MECP2, is a rare disorder with a nascent understanding in clinical features and severity. Studies using antisense oligonucleotides revealed a broad phenotypic
Autor:
Muharrem Ak, Zekeriya Akturk, Kristina Bowyer, Laurence Mignon, Sasidhar Pasupuleti, Daniel G. Glaze, Bernhard Suter, Davut Pehlivan
Publikováno v:
Pediatric neurology. 133
MECP2 duplication syndrome (MDS) is a rare neurogenetic disorder characterized by severe neurodevelopmental disorder, refractory epilepsy, recurrent infections, and functional gastrointestinal problems. Because of the significant clinical problems an