RE-BVS – Piemonte Repository

Sfoglia per AUTORE
CHATRON N
Collezione ASL Città di Torino

Items : 2

Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum. in American journal of human genetics / Am J Hum Genet. 2025 Mar 6;112(3):554-571. doi: 10.1016/j.ajhg.2025.01.021. Epub 2025 Feb 19.

2025
ASL Città di Torino

Verbinnen I; Douzgou Houge S; Hsieh TC; Lesmann H; Kirchhoff A; Geneviève D; Brimble E; Lenaerts L; Haesen D; Levy RJ; Thevenon J; Faivre L; Marco E; Chong JX; Bamshad M; Patterson K; Mirzaa GM; Foss K; Dobyns W; White SM; Pais L; O'Heir E; Itzikowitz R; Donald KA; Van der Merwe C; Mussa A; Cervini R; Giorgio E; Roscioli T; et alii...

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...