1. Autism spectrum disorder and intellectual disability in an inherited 2q14.3 micro‐deletion involving CNTNAP5. Issue 12 (25th September 2020) Authors: Aleo, Sebastiano; Milani, Donatella; Pansa, Alessandra; Marchisio, Paola; Guerneri, Silvana; Silipigni, Rosamaria Journal: American journal of medical genetics Issue: Volume 182:Issue 12(2020) Page Start: 3071 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) ↗
3. Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception?. Issue 2 (18th December 2018) Authors: Kurtas, Nehir Edibe; Xumerle, Luciano; Giussani, Ursula; Pansa, Alessandra; Cardarelli, Laura; Bertini, Veronica; Valetto, Angelo; Liehr, Thomas; Clara Bonaglia, Maria; Errichiello, Edoardo; Delledonne, Massimo; Zuffardi, Orsetta Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 2(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗