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Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical Manifestations. in Clinical genetics / Clin Genet. 2025 Mar;107(3):354-358. doi: 10.1111/cge.14654. Epub 2024 Nov 27.
2025
AO Cuneo
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Ferrero GB; Brusco A; Buxbaum JD; Tartaglia M; Sadikovic B; De Rubeis S; Cardaropoli S; Bruselles A; Balzo M; Todd E; Rzasa J; McConkey H; Kerkhof J; De Sanctis L; Mantovani G; Sorasio L; Carestiato S; Trajkova S; Pavinato L;

Impact of lockdown during COVID-19 emergency on glucose metrics of children and adolescents with type 1 diabetes in Piedmont, Italy. in Acta diabetologica / Acta Diabetol. 2021 Jul;58(7):959-961. doi: 10.1007/s00592-021-01702-0. Epub 2021 Mar 15.
2021
AO Cuneo
AOU Città della Salute di Torino

Tappi E; Felici E; Pozzi E; Marchisio M; Franceschi L; Bertelli E; Nugnes M; De Donno V; Trada M; Grosso C; De Sanctis L; Savastio S; Tinti D; Rabbone I;