Pubblicazioni

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas

2015 - EUROPEAN JOURNAL OF HUMAN GENETICS

Pinna, Valentina; Lanari, Valentina; Daniele, Paola; Consoli, Federica; Agolini, Emanuele; Margiotti, Katia; Bottillo, Irene; Torrente, Isabella; Bruselles, Alessandro; Fusilli, Caterina; Ficcadenti, Anna; Bargiacchi, Sara; Trevisson, Eva; Forzan, Monica; Giustini, Sandra; Leoni, Chiara; Zampino, Giuseppe; Digilio, Maria Cristina; Dallapiccola, Bruno; Clementi, Maurizio; Tartaglia, Marco; De Luca, Alessandro

Morphologic and vasculature features of the choroid and associated choroid-retinal thickness alterations in neurofibromatosis type 1

2015 - BRITISH JOURNAL OF OPHTHALMOLOGY

Abdolrahimzadeh, Solmaz; Felli, Lorenzo; Plateroti, Rocco; Plateroti, ANDREA MARIA; Giustini, Sandra; Calvieri, Stefano; Recupero, Santi Maria