A Novel Mutation of GFAP Causing Adult-Onset Alexander Disease

por Ciammola, Andrea, Sangalli, Davide, Sassone, Jenny, Poletti, Barbara, Carelli, Laura, Banfi, Paolo, Pappacoda, Gabriele, Ceccherini, Isabella, Grossi, Alice, Maderna, Luca, Pingue, Monica, Girotti, Floriano, Silani, Vincenzo
Publicado 2019

Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?

por Pezzani, Lidia, Pezzoli, Laura, Pansa, Alessandra, Facchinetti, Barbara, Marchetti, Daniela, Scatigno, Agnese, Lincesso, Anna R., Perego, Loredana, Pingue, Monica, Pellicioli, Isabella, Migliazza, Lucia, Mangili, Giovanna, Galletti, Lorenzo, Giussani, Ursula, Bonanomi, Ezio, Cereda, Anna, Iascone, Maria
Publicado 2020

Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management

por Pezzoli, Laura, Pezzani, Lidia, Bonanomi, Ezio, Marrone, Chiara, Scatigno, Agnese, Cereda, Anna, Bedeschi, Maria Francesca, Selicorni, Angelo, Gasperini, Serena, Bini, Paolo, Maitz, Silvia, Maccioni, Carla, Pedron, Cristina, Colombo, Lorenzo, Marchetti, Daniela, Bellini, Matteo, Lincesso, Anna Rita, Perego, Loredana, Pingue, Monica, Della Malva, Nunzia, Mangili, Giovanna, Ferrazzi, Paolo, Iascone, Maria
Publicado 2021