Sfoglia per AUTORE
BRECKPOT J
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
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...
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
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...