1. A case report with the peculiar concomitance of 2 different genetic syndromes. Issue 49 (December 2016) Authors: Lerario, Alberto; Colombo, Irene; Milani, Donatella; Peverelli, Lorenzo; Villa, Luisa; Del Bo, Roberto; Sciacco, Monica; Comi, Giacomo Pietro; Esposito, Susanna; Moggio, Maurizio Other Names: Clelland. Catherine section editor. Journal: Medicine Issue: Volume 95:Issue 49(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A HS6ST2 gene variant associated with X‐linked intellectual disability and severe myopia in two male twins. Issue 3 (26th December 2018) Authors: Paganini, Leda; Hadi, Loubna A.; Chetta, Massimiliano; Rovina, Davide; Fontana, Laura; Colapietro, Patrizia; Bonaparte, Eleonora; Pezzani, Lidia; Marchisio, Paola; Tabano, Silvia M.; Costanza, Jole; Sirchia, Silvia M.; Riboni, Laura; Milani, Donatella; Miozzo, Monica Journal: Clinical genetics Issue: Volume 95:Issue 3(2019) Page Start: 368 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A multidisciplinary approach in neurofibromatosis 1. Issue 1 (January 2015) Authors: Milani, Donatella; Pezzani, Lidia; Tadini, Gianluca; Menni, Francesca; Esposito, Susanna Journal: Lancet neurology Issue: Volume 14:Issue 1(2015:Jan.) Page Start: 29 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype12. Issue 3 (22nd January 2013) Authors: Castronovo, Chiara; Rusconi, Daniela; Crippa, Milena; Giardino, Daniela; Gervasini, Cristina; Milani, Donatella; Cereda, Anna; Larizza, Lidia; Selicorni, Angelo; Finelli, Palma Journal: American journal of medical genetics Issue: Volume 161:Issue 3(2013:Mar.) Page Start: 611 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome. Issue 6 (16th April 2018) Authors: Paganini, Leda; Pesenti, Chiara; Milani, Donatella; Fontana, Laura; Motta, Silvia; Sirchia, Silvia Maria; Scuvera, Giulietta; Marchisio, Paola; Esposito, Susanna; Cinnante, Claudia Maria; Tabano, Silvia Maria; Miozzo, Monica Rosa Journal: American journal of medical genetics Issue: Volume 176:Issue 6(2018) Page Start: 1427 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. ANKRD11 variants: KBG syndrome and beyond. Issue 2 (14th May 2021) Authors: Parenti, Ilaria; Mallozzi, Mark B.; Hüning, Irina; Gervasini, Cristina; Kuechler, Alma; Agolini, Emanuele; Albrecht, Beate; Baquero‐Montoya, Carolina; Bohring, Axel; Bramswig, Nuria C.; Busche, Andreas; Dalski, Andreas; Guo, Yiran; Hanker, Britta; Hellenbroich, Yorck; Horn, Denise; Innes, A. Mich... Journal: Clinical genetics Issue: Volume 100:Issue 2(2021) Page Start: 187 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Aortic dilation in Sotos syndrome: An underestimated feature?. Issue 7 (14th April 2020) Authors: Pezzani, Lidia; Mauri, Lucia; Selicorni, Angelo; Peron, Angela; Grasso, Marina; Codazzi, Alessia C.; Rimini, Alessandro; Marchisio, Paola G.; Coviello, Domenico; Colli, Anna; Milani, Donatella Journal: American journal of medical genetics Issue: Volume 182:Issue 7(2020) Page Start: 1819 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. 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) ↗
9. Characterization of intellectual disability and autism comorbidity through gene panel sequencing. Issue 6 (20th March 2020) Authors: Aspromonte, Maria C.; Bellini, Mariagrazia; Gasparini, Alessandra; Carraro, Marco; Bettella, Elisa; Polli, Roberta; Cesca, Federica; Bigoni, Stefania; Boni, Stefania; Carlet, Ombretta; Negrin, Susanna; Mammi, Isabella; Milani, Donatella; Peron, Angela; Sartori, Stefano; Toldo, Irene; Soli, Fioren... Journal: Human mutation Issue: Volume 41:Issue 6(2020) Page Start: 1183 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Characterization of intellectual disability and autism comorbidity through gene panel sequencing. Issue 9 (2nd August 2019) Authors: Aspromonte, Maria C.; Bellini, Mariagrazia; Gasparini, Alessandra; Carraro, Marco; Bettella, Elisa; Polli, Roberta; Cesca, Federica; Bigoni, Stefania; Boni, Stefania; Carlet, Ombretta; Negrin, Susanna; Mammi, Isabella; Milani, Donatella; Peron, Angela; Sartori, Stefano; Toldo, Irene; Soli, Fioren... Editors: Moult, John; Brenner, Steven E. Other Names: Karchin Rachel guestEditor.; Pal Lipika R. specialEditor. Journal: Human mutation Issue: Volume 40:Issue 9(2019) Page Start: 1346 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗