RE-BVS – Piemonte Repository

Sfoglia per AUTORE
NEAS K
Collezione AOU Città della Salute di Torino

Items : 2

Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return. in European journal of human genetics : EJHG / Eur J Hum Genet. 2023 Dec;31(12):1430-1439. doi: 10.1038/s41431-023-01451-4. Epub 2023 Sep 7.

2023
AOU Città della Salute di Torino

Geddes GC; Landis BJ; Helvaty LR; Rankin J; Kerstjens-Frederikse WS; Brusco A; Ferrero GB; Neas K; Armstrong R; Tan TY; Burgess T; Kini U; Sasaki E; Kraus A; Breckpot J; Gewillig M; Louw JJ; Parker MJ; Clayton-Smith J; Joss S; Dorf ILH; Vogel I; Luna PN; Owen N; Zhao X; Huth EA; McBride KL; Ware SM; Shaw CA; 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...