1. Defining the electroclinical phenotype and outcome of PCDH19‐related epilepsy: A multicenter study. (19th November 2018) Authors: Trivisano, Marina; Pietrafusa, Nicola; Terracciano, Alessandra; Marini, Carla; Mei, Davide; Darra, Francesca; Accorsi, Patrizia; Battaglia, Domenica; Caffi, Lorella; Canevini, Maria P.; Cappelletti, Simona; Cesaroni, Elisabetta; de Palma, Luca; Costa, Paola; Cusmai, Raffaella; Giordano, Lucio; Fe... Journal: Epilepsia Issue: Volume 59:issue 12(2018) Page Start: 2260 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Snyder–Robinson syndrome: A novel nonsense mutation in spermine synthase and expansion of the phenotype. Issue 9 (29th July 2013) Authors: Peron, Angela; Spaccini, Luigina; Norris, Joy; Bova, Stefania M.; Selicorni, Angelo; Weber, Giovanna; Wood, Tim; Schwartz, Charles E.; Mastrangelo, Massimo Journal: American journal of medical genetics Issue: Volume 161:Issue 9(2013:Sep.) Page Start: 2316 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Snyder–Robinson syndrome: A novel nonsense mutation in spermine synthase and expansion of the phenotype. Issue 9 (29th July 2013) Authors: Peron, Angela; Spaccini, Luigina; Norris, Joy; Bova, Stefania M.; Selicorni, Angelo; Weber, Giovanna; Wood, Tim; Schwartz, Charles E.; Mastrangelo, Massimo Journal: American journal of medical genetics Issue: Volume 161:Issue 9(2013:Sep.) Page Start: 2316 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗