1. 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) ↗
2. A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency. Issue 6 (24th October 2017) Authors: Paganini, I.; Sestini, R.; Capone, G.L.; Putignano, A.L.; Contini, E.; Giotti, I.; Gensini, F.; Marozza, A.; Barilaro, A.; Porfirio, B.; Papi, L. Journal: Clinical genetics Issue: Volume 92:Issue 6(2017) Page Start: 664 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗