RE-BVS – Piemonte Repository

Sfoglia per AUTORE
MAKITA N
Collezione AOU Città della Salute di Torino

Items : 3

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls. in Genetics in medicine : official journal of the American College of Medical Genetics / Genet Med. 2021 Jan;23(1):47-58. doi: 10.1038/s41436-020-00946-5. Epub 2020 Sep 7.

2021
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Bezzina CR; Behr ER; Barc J; Probst V; Ohno S; Redon R; Schott JJ; Aiba T; Shimizu W; Schwartz PJ; Schulze-Bahr E; Makita N; Priori SG; Gimeno JR; Hasdemir C; Guicheney P; Brugada J; Ackerman MJ; Brugada R; Giachino DF; Robyns T; Brugada P; Kääb S; Yoshinaga M; Saenen JB; Nakajima T; Hayashi K; Rydberg A; Borggrefe M; et alii...

Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry. in European heart journal / Eur Heart J. 2019 Sep 14;40(35):2964-2975. doi: 10.1093/eurheartj/ehz311.

2019
AOU Città della Salute di Torino

Crotti L; Spazzolini C; Tester DJ; Ghidoni A; Baruteau AE; Beckmann BM; Behr ER; Bennett JS; Bezzina CR; Bhuiyan ZA; Celiker A; Cerrone M; Dagradi F; De Ferrari GM; Etheridge SP; Fatah M; Garcia-Pavia P; Al-Ghamdi S; Hamilton RM; Al-Hassnan ZN; Horie M; Jimenez-Jaimez J; Kanter RJ; Kaski JP; Kotta MC; Lahrouchi N; Makita N; Norrish G; Odland HH; et alii...

The Phenotypic Spectrum of a Mutation Hotspot Responsible for the Short QT Syndrome. in JACC. Clinical electrophysiology / JACC Clin Electrophysiol. 2017 Jul;3(7):727-743. doi: 10.1016/j.jacep.2016.11.013. Epub 2017 Feb 1.

2017
AOU Città della Salute di Torino

Hu D; Li Y; Zhang J; Pfeiffer R; Gollob MH; Healey J; Harrell DT; Makita N; Abe H; Sun Y; Guo J; Zhang L; Yan G; Mah D; Walsh EP; Leopold HB; Giustetto C; Gaita F; Zienciuk-Krajka A; Mazzanti A; Priori SG; Antzelevitch C; Barajas-Martinez H; Hu D; Li Y; Zhang J; Pfeiffer R; Gollob MH; Healey J; et alii...