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Collezione AOU Città della Salute di Torino

  

Items : 2

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...

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...