1. Clinical and molecular characterization of Rubinstein‐Taybi syndrome patients carrying distinct novel mutations of the EP300 gene. (17th February 2014) Authors: Negri, G.; Milani, D.; Colapietro, P.; Forzano, F.; Della Monica, M.; Rusconi, D.; Consonni, L.; Caffi, L. G.; Finelli, P.; Scarano, G.; Magnani, C.; Selicorni, A.; Spena, S.; Larizza, L.; Gervasini, C. Journal: Clinical genetics Issue: Volume 87:Number 2(2015:Feb.) Page Start: 148 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Insights into genotype–phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein–Taybi syndrome patients. (9th December 2014) Authors: Spena, S.; Milani, D.; Rusconi, D.; Negri, G.; Colapietro, P.; Elcioglu, N.; Bedeschi, F.; Pilotta, A.; Spaccini, L.; Ficcadenti, A.; Magnani, C.; Scarano, G.; Selicorni, A.; Larizza, L.; Gervasini, C. Journal: Clinical genetics Issue: Volume 88:Number 5(2015:Nov.) Page Start: 431 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗