RE-BVS – Piemonte Repository

Sfoglia per AUTORE
COURTIN T
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...

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. in American journal of human genetics / Am J Hum Genet. 2021 May 6;108(5):857-873. doi: 10.1016/j.ajhg.2021.04.001.

2021
AOU Città della Salute di Torino

Voisin N; Schnur RE; Douzgou S; Hiatt SM; Rustad CF; Brown NJ; Earl DL; Keren B; Levchenko O; Geuer S; Verheyen S; Johnson D; Zarate YA; Han?árová M; Amor DJ; Bebin EM; Blatterer J; Brusco A; Cappuccio G; Charrow J; Chatron N; Cooper GM; Courtin T; Dadali E; Delafontaine J; Del Giudice E; Doco M; Douglas G; Eisenkölbl A; et alii...