1. Atypical presentation of pediatric BRAF RASopathy with acute encephalopathy. Issue 12 (21st November 2018) Authors: Pezzani, Lidia; Marchetti, Daniela; Cereda, Anna; Caffi, Lorella G.; Manara, Ornella; Mamoli, Daniela; Pezzoli, Laura; Lincesso, Anna R.; Perego, Loredana; Pellicioli, Isabella; Bonanomi, Ezio; Salvoni, Laura; Iascone, Maria Journal: American journal of medical genetics Issue: Volume 176:Issue 12(2018) Page Start: 2867 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?. Issue 3 (14th January 2020) Authors: 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... Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 3(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗