Pubblicazioni

Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy

2019 - HUMAN MUTATION

Motta, Marialetizia; Giancotti, Antonella; Mastromoro, Gioia; Chandramouli, Balasubramanian; Pinna, Valentina; Pantaleoni, Francesca; DI GIOSAFFATTE, Niccolo'; Petrini, Stefania; Mazza, Tommaso; D'Ambrosio, Valentina; Versacci, Paolo; Ventriglia, Flavia; Chillemi, Giovanni; Pizzuti, Antonio; Tartaglia, Marco; De Luca, Alessandro

Noonan syndrome-like disorder with loose anagen hair: A second case with neuroblastoma.

2015 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Garavelli, L; Cordeddu, V; Errico, S; Bertolini, P; Street, Me; Rosato, S; Pollazzon, M; Wischmeijer, A; Ivanovski, I; Daniele, P; Bacchini, E; Lombardi, Aa; Izzi, G; Biasucci, G; Del Rossi, C; Corradi, D; Cazzaniga, G; Dominici, Carlo; Rossi, C; De Luca, A; Bernasconi, S; Riccardi, R; Legius, E; Tartaglia, M.