RE-BVS – Piemonte Repository

Sfoglia per RIVISTA
NPJ GENOMIC MEDICINE
Collezione AOU Città della Salute di Torino

Items : 2

Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis. in NPJ genomic medicine / NPJ Genom Med. 2022 Jan 28;7(1):8. doi: 10.1038/s41525-021-00267-9.

2022
AOU Città della Salute di Torino

Al Khleifat A; Iacoangeli A; van Vugt JJFA; Bowles H; Moisse M; Zwamborn RAJ; van der Spek RAA; Shatunov A; Cooper-Knock J; Topp S; Byrne R; Gellera C; López V; Jones AR; Opie-Martin S; Vural A; Campos Y; van Rheenen W; Kenna B; Van Eijk KR; Kenna K; Weber M; Smith B; Fogh I; Silani V; Morrison KE; Dobson R; van Es MA; McLaughlin RL; 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...