1. 1419 Sirolimus for the treatment of infant with tuberous sclerosis complex:Evaluation of safety and clinical benefits in the first months of therapy. (September 2015) Authors: Lucchesi, M.; Chiappa, E.; Giordano, F.; Mari, F.; Stival, A.; Bacci, G.; Becciani, S.; Guidi, M.; Farina, S.; De Martino, M.; Sardi, I. Journal: European journal of cancer Issue: Volume 51:(2015)Supplement 3 Page Start: S203 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 9q31.1q31.3 deletion in two patients with similar clinical features: A newly recognized microdeletion syndrome?. Issue 3 (20th December 2013) Authors: Mucciolo, M.; Magini, P.; Marozza, A.; Mongelli, P.; Mencarelli, M.A.; Hayek, G.; Tavalazzi, F.; Mari, F.; Seri, M.; Renieri, A.; Graziano, C. Journal: American journal of medical genetics Issue: Volume 164:Issue 3(2014.) Page Start: 685 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Alport syndrome: impact of digenic inheritance in patients management. Issue 1 (22nd February 2017) Authors: Fallerini, C.; Baldassarri, M.; Trevisson, E.; Morbidoni, V.; La Manna, A.; Lazzarin, R.; Pasini, A.; Barbano, G.; Pinciaroli, A.R.; Garosi, G.; Frullanti, E.; Pinto, A.M.; Mencarelli, M.A.; Mari, F.; Renieri, A.; Ariani, F. Journal: Clinical genetics Issue: Volume 92:Issue 1(2017) Page Start: 34 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Genetic identification of burned corpses as a part of disaster victim identification effort. (December 2015) Authors: Ricci, U.; Carboni, I.; Iozzi, S.; Nutini, A.L.; Contini, E.; Torricelli, F.; Focardi, M.; Pinchi, V.; Mari, F.; Norelli, G.A. Journal: Forensic science international Issue: Volume 5(2015) Page Start: e447 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Genetic identification of burned corpses as a part of disaster victim identification effort. (December 2015) Authors: Ricci, U.; Carboni, I.; Iozzi, S.; Nutini, A.L.; Contini, E.; Torricelli, F.; Focardi, M.; Pinchi, V.; Mari, F.; Norelli, G.A. Journal: Forensic science international Issue: Volume 5(2015) Page Start: e447 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Stratigraphy of the fluvial deposits of the Salado river basin, Buenos Aires Province: Lithology, chronology and paleoclimate. (July 2015) Authors: Fucks, E.; Pisano, M.F.; Huarte, R.A.; Di Lello, C.V.; Mari, F.; Carbonari, J.E. Journal: Journal of South American earth sciences Issue: Volume 60(2015:Jul.) Page Start: 129 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases. (17th October 2013) Authors: Fallerini, C.; Dosa, L.; Tita, R.; Del Prete, D.; Feriozzi, S.; Gai, G.; Clementi, M.; La Manna, A.; Miglietti, N.; Mancini, R.; Mandrile, G.; Ghiggeri, G.M.; Piaggio, G.; Brancati, F.; Diano, L.; Frate, E.; Pinciaroli, A.R.; Giani, M.; Castorina, P.; Bresin, E. Journal: Clinical genetics Issue: Volume 86:Number 3(2014:Sep.) Page Start: 252 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Visual impairment in FOXG1-mutated individuals and mice. (2nd June 2016) Authors: Boggio, E.M.; Pancrazi, L.; Gennaro, M.; Lo Rizzo, C.; Mari, F.; Meloni, I.; Ariani, F.; Panighini, A.; Novelli, E.; Biagioni, M.; Strettoi, E.; Hayek, J.; Rufa, A.; Pizzorusso, T.; Renieri, A.; Costa, M. Journal: Neuroscience Issue: Volume 324(2016) Page Start: 496 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗