RE-BVS – Piemonte Repository

Sfoglia per AUTORE
BENETEAU C
Collezione AOU Città della Salute di Torino

Items : 2

The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome. in Proceedings of the National Academy of Sciences of the United States of America / Proc Natl Acad Sci U S A. 2024 Mar 19;121(12):e2317601121. doi: 10.1073/pnas.2317601121. Epub 2024 M

2024
AOU Città della Salute di Torino

Pisan E; De Luca C; Brancati F; Sanchez Russo R; Li D; Bhoj E; Wenger T; Marwaha A; Johnson N; Beneteau C; Brischoux-Boucher E; Houge G; Paulsen J; Hammer TB; Ek J; Schweitzer D; Russell BE; Dutra-Clarke M; Nelson S; Douine ED; Corona RI; Dudding T; Thomson H; Low K; Belnap N; Iascone M; Priolo M; Carli D; Mussa A; et alii...

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data. in American journal of medical genetics. Part A / Am J Med Genet A. 2022 Oct;188(10):2958-2968. doi: 10.1002/ajmg.a.62919. Epub 2022 Jul 29.

2022
AOU Città della Salute di Torino

Cole T; Morton J; Turnpenny PD; McKee S; Lam WWK; Harrison RE; Shannon NL; Varghese V; Bernardini L; Giuffrida MG; Dean J; McMullan DJ; Boogaerts A; Van Den Bogaert K; Joubert M; Beneteau C; Wellesley D; Di Gregorio E; Brusco A; Ferrero GB; Neas K; Rustad CF; Graziani L; Digilio MC; Capolino R; Dentici ML; Novelli A; Di Tommaso S; Hernandez-Garcia A; et alii...