RE-BVS – Piemonte Repository

Sfoglia per AUTORE
LESCA G
Collezione AOU Città della Salute di Torino

Items : 2

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases. in Cell reports / Cell Rep. 2022 Mar 15;38(11):110517. doi: 10.1016/j.celrep.2022.110517.

2022
ASL Città di Torino
AOU Città della Salute di Torino

Pavinato L; Platzer K; Keller R; Rosenhahn E; Strehlow V; Trajkova S; Delanne J; Sukarova-Angelovska E; Leiz S; Mau-Them FT; Brugger M; Roser T; Courtin T; Perrin L; Keren B; Agrawal PB; Madden JA; Brownstein CA; Chatron N; Sabatier I; Lesca G; Barakat TS; van Dooren MF; Wilke M; van Slegtenhorst M; Vetro A; England E; Murali CN; Fehr S; et alii...

Missense variant contribution to USP9X-female syndrome. in NPJ genomic medicine / NPJ Genom Med. 2020 Dec 9;5(1):53. doi: 10.1038/s41525-020-00162-9.

2020
AOU Città della Salute di Torino

Jolly LA; Parnell E; Gardner AE; Corbett MA; Pérez-Jurado LA; Shaw M; Lesca G; Keegan C; Schneider MC; Griffin E; Maier F; Kiss C; Guerin A; Crosby K; Rosenbaum K; Tanpaiboon P; Whalen S; Keren B; McCarrier J; Basel D; Sadedin S; White SM; Delatycki MB; Kleefstra T; Küry S; Brusco A; Sukarova-Angelovska E; Trajkova S; Yoon S; et alii...