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Sfoglia per AUTORE
LESCA G
Collezione ASL Città di Torino

Items : 2

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. in European journal of human genetics : EJHG / Eur J Hum Genet. 2023 Sep;31(9):1023-1031. doi: 10.1038/s41431-023-01410-z. Epub 2023 Jun 21.

2023
ASL Città di Torino

Doco-Fenzy M; Denommé-Pichon AS; Di Giacomo MC; Delague V; Danhaive O; Coubes C; Cornet MC; Miryounesi M; Zara F; Lesca G; Yassaee VR; Wagner M; Zaki MS; Villard L; Vitobello A; Valente EM; Venot P; Cilio MR; Accogli A; Agolini E; Alkuraya FS; Baglioni V; Bagnasco I; Becmeur-Lefebvre M; Bertini E; Borggraefe I; Brischoux-Boucher E; Bruel AL; Brusco A; 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
AOU Città della Salute di Torino
ASL Città di Torino

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