Sfoglia per RIVISTA
GENETICS IN MEDICINE : OFFICIAL JOURNAL OF THE AMERICAN COLLEGE OF MEDICAL GENETICS
Collezione AOU San Luigi di Orbassano

  

Items : 2

DLG4-related synaptopathy: a new rare brain disorder. in Genetics in medicine : official journal of the American College of Medical Genetics / Genet Med. 2021 May;23(5):888-899. doi: 10.1038/s41436-020-01075-9. Epub 2021 Feb 17.

2021
AOU San Luigi di Orbassano

van Drie E; van de Burgt I; van de Laar IMBH; van Bon B; Mau-Them FT; Thiese H; Spranger S; Shieh JT; Shohat M; Shaw-Smith C; Shad Z; Schönewolf-Greulich B; Schlüter A; Savatt JM; Sarrazin E; Ruivenkamp CAL; Ross MJ; Revah-Politi A; Repnikova E; Rauch A; Pode-Shakked B; Pfundt R; Parikh S; Pacio-Míguez M; Palomares-Bralo M; O'Leary M; Müller AJ; Moutton S; Morton JE; 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

Giachino DF; Robyns T; Brugada P; Kääb S; Saenen JB; Yoshinaga M; Nakajima T; Hayashi K; Rydberg A; Borggrefe M; Lambiase PD; Olesen MS; van den Berg MP; Skinner JR; Tfelt-Hansen J; Roberts JD; Roden DM; Odening KE; Platonov PG; Antzelevitch C; Lubitz SA; Volders PGA; Zumhagen S; Yamagata K; Winkel BG; Winbo A; Van Laer L; Van Dooren S; van der Zwaag PA; et alii...