RE-BVS – Piemonte Repository

Sfoglia per AUTORE
CHUNG WK
Collezione AOU Città della Salute di Torino

Items : 4

Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease. in Nature communications / Nat Commun. 2023 Nov 30;14(1):7836. doi: 10.1038/s41467-023-43020-9.

2023
AOU Città della Salute di Torino

Gupta Y; Friedman DJ; McNulty MT; Khan A; Lane B; Wang C; Ke J; Jin G; Wooden B; Knob AL; Lim TY; Appel GB; Huggins K; Liu L; Mitrotti A; Stangl MC; Bomback A; Westland R; Bodria M; Marasa M; Shang N; Cohen DJ; Crew RJ; Morello W; Canetta P; Radhakrishnan J; Martino J; Liu Q; Chung WK; 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...

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. in American journal of human genetics / Am J Hum Genet. 2021 May 6;108(5):857-873. doi: 10.1016/j.ajhg.2021.04.001.

2021
AOU Città della Salute di Torino

Voisin N; Schnur RE; Douzgou S; Hiatt SM; Rustad CF; Brown NJ; Earl DL; Keren B; Levchenko O; Geuer S; Verheyen S; Johnson D; Zarate YA; Han?árová M; Amor DJ; Bebin EM; Blatterer J; Brusco A; Cappuccio G; Charrow J; Chatron N; Cooper GM; Courtin T; Dadali E; Delafontaine J; Del Giudice E; Doco M; Douglas G; Eisenkölbl A; et alii...

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer. in JAMA / JAMA. 2015 Apr 7;313(13):1347-61. doi: 10.1001/jama.2014.5985.

2015
AOU Città della Salute di Torino

Rebbeck TR; Mitra N; Wan F; Sinilnikova OM; Healey S; McGuffog L; Mazoyer S; Chenevix-Trench G; Easton DF; Antoniou AC; Nathanson KL; Laitman Y; Kushnir A; Paluch-Shimon S; Berger R; Zidan J; Friedman E; Ehrencrona H; Stenmark-Askmalm M; Einbeigi Z; Loman N; Harbst K; Rantala J; Melin B; Huo D; Olopade OI; Seldon J; Ganz PA; Nussbaum RL; et alii...