RE-BVS – Piemonte Repository

Sfoglia per AUTORE
KüRY S
Collezione AOU Città della Salute di Torino

Items : 2

Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families. in American journal of medical genetics. Part A / Am J Med Genet A. 2023 Jul;191(7):1900-1910. doi: 10.1002/ajmg.a.63226. Epub 2023 May 14.

2023
AOU Città della Salute di Torino

Wojcik MH; Srivastava S; Agrawal PB; Balci TB; Callewaert B; Calvo PL; Carli D; Caudle M; Colaiacovo S; Cross L; Demetriou K; Drazba K; Dutra-Clarke M; Edwards M; Genetti CA; Grange DK; Hickey SE; Isidor B; Küry S; Lachman HM; Lavillaureix A; Lyons MJ; Marcelis C; Marco EJ; Martinez-Agosto JA; Nowak C; Pizzol A; Planes M; Prijoles EJ; 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...