Pubblicazioni

Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy

2022 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

De Maria, B.; Balestrini, S.; Mei, D.; Melani, F.; Pellacani, S.; Pisano, T.; Rosati, A.; Scaturro, G. M.; Giordano, L.; Cantalupo, G.; Fontana, E.; Zammarchi, C.; Said, E.; Leuzzi, V.; Mastrangelo, M.; Galosi, S.; Parrini, E.; Guerrini, R.

PRICKLE1-related early onset epileptic encephalopathy

2018 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Mastrangelo, M; Tolve, M; Martinelli, M; DI NOIA, S; Parrini, E; Leuzzi, V