Recurrent pericarditis in a patient with Bardet–Biedl syndrome: A case report

por Mauro, Angela, Casini, Francesca, Congedo, Emanuele Chittano, L’assainato, Sara, Pinto, Francesca, Ansuini, Valentina, Mascolo, Ruggiero, Pedroli, Alice, Bernardo, Luca
Publicado 2022

Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities

por Accogli, Andrea, Iacomino, Michele, Pinto, Francesca, Orsini, Alessandro, Vari, Maria Stella, Selmi, Raed, Torella, Annalaura, Nigro, Vincenzo, Minetti, Carlo, Severino, Mariasavina, Striano, Pasquale, Capra, Valeria, Zara, Federico
Publicado 2017