1. 307 NOONAN SYNDROME AND CUTANEOUS FINDINGS WITHOUT A PTPN11 MUTATION? NOONAN SYNDROME II. (1st January 2004) Authors: Curry, C. J.; Airheart, C.; Barnett, N.; Tartaglia, M. Journal: Journal of investigative medicine Issue: Volume 52(2004)Supplement 1 Page Start: S133 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia. Issue 3 (25th May 2016) Authors: Torraco, A.; Bianchi, M.; Verrigni, D.; Gelmetti, V.; Riley, L.; Niceta, M.; Martinelli, D.; Montanari, A.; Guo, Y.; Rizza, T.; Diodato, D.; Di Nottia, M.; Lucarelli, B.; Sorrentino, F.; Piemonte, F.; Francisci, S.; Tartaglia, M.; Valente, E.M.; Dionisi‐Vici, C.; Christodoulou, J. Journal: Clinical genetics Issue: Volume 91:Issue 3(2017) Page Start: 441 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Abnormal motor surround inhibition associated with cortical and deep grey matter involvement in multiple sclerosis. Issue 5 (May 2021) Authors: Belvisi, D.; Giannì, C.; Tartaglia, M.; Petsas, N.; Baione, V.; Crisafulli, S.G.; Pantano, P.; Berardelli, A.; Conte, A. Journal: Clinical neurophysiology Issue: Volume 132:Issue 5(2021) Page Start: 1151 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Altered sensorimotor integration in multiple sclerosis: A combined neurophysiological and functional MRI study. Issue 9 (September 2021) Authors: Giannì, C.; Belvisi, D.; Conte, A.; Tommasin, S.; Cortese, A.; Petsas, N.; Baione, V.; Tartaglia, M.; Millefiorini, E.; Berardelli, A.; Pantano, P. Journal: Clinical neurophysiology Issue: Volume 132:Issue 9(2021) Page Start: 2191 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog. Issue 2 (23rd May 2018) Authors: Digilio, M.C.; Pugnaloni, F.; De Luca, A.; Calcagni, G.; Baban, A.; Dentici, M.L.; Versacci, P.; Dallapiccola, B.; Tartaglia, M.; Marino, B. Journal: Clinical genetics Issue: Volume 95:Issue 2(2019) Page Start: 268 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Biallelic mutations in DYNC2LI1 are a rare cause of Ellis‐van Creveld syndrome. Issue 3 (24th January 2018) Authors: Niceta, M.; Margiotti, K.; Digilio, M.C.; Guida, V.; Bruselles, A.; Pizzi, S.; Ferraris, A.; Memo, L.; Laforgia, N.; Dentici, M.L.; Consoli, F.; Torrente, I.; Ruiz‐Perez, V.L.; Dallapiccola, B.; Marino, B.; De Luca, A.; Tartaglia, M. Journal: Clinical genetics Issue: Volume 93:Issue 3(2018) Page Start: 632 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. BrachyView: Combining LDR seed positions with transrectal ultrasound imaging in a prostate gel phantom. (February 2017) Authors: Alnaghy, S.; Cutajar, D.L.; Bucci, J.A.; Enari, K.; Safavi-Naeini, M.; Favoino, M.; Tartaglia, M.; Carriero, F.; Jakubek, J.; Pospisil, S.; Lerch, M.; Rosenfeld, A.B.; Petasecca, M. Journal: Physica medica Issue: Volume 34(2017) Page Start: 55 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. BrachyView: Reconstruction of seed positions and volume of an LDR prostate brachytherapy patient plan using a baseline subtraction algorithm. (October 2019) Authors: Brennen, T.; Cutajar, D.L.; Alnaghy, S.; Bucci, J.; Bece, A.; Enari, K.; Favoino, M.; Carriero, F.; Tartaglia, M.; Galli, L.; Lerch, M.; Rosenfeld, A.B.; Petasecca, M. Journal: Physica medica Issue: Volume 66(2019) Page Start: 66 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Clinical, biochemical and molecular characterization of prosaposin deficiency. Issue 3 (19th February 2016) Authors: Motta, M.; Tatti, M.; Furlan, F.; Celato, A.; Di Fruscio, G.; Polo, G.; Manara, R.; Nigro, V.; Tartaglia, M.; Burlina, A.; Salvioli, R. Journal: Clinical genetics Issue: Volume 90:Issue 3(2016) Page Start: 220 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Co-occurring SYNJ1 and SHANK3 variants in a girl with intellectual disability, early-onset parkinsonism and catatonic episodes. (March 2021) Authors: Galosi, S.; Martinelli, S.; Pannone, L.; Terrinoni, A.; Venditti, M.; Pizzi, S.; Ciolfi, A.; Chillemi, G.; Gigliotti, F.; Cesario, S.; Tartaglia, M.; Leuzzi, V. Journal: Parkinsonism & related disorders Issue: Volume 84(2021) Page Start: 5 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗