Pubblicazioni

De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females

2020 - NEUROGENETICS

Scala, M.; Zonneveld-Huijssoon, E.; Brienza, M.; Mecarelli, O.; van der Hout, A. H.; Zambrelli, E.; Turner, K.; Zara, F.; Peron, A.; Vignoli, A.; Striano, P.

Neurodevelopmental Impairment As the Main Phenotypic Hallmark Associated with the Translocation t(7;10)(7p22.3;q26.11)

2020 - JOURNAL OF PEDIATRIC GENETICS

Mastrangelo, M; Torres, B; De Vita, G; Goldoni, M; De Giorgi, A; Bernardini, L; Leuzzi, V

Autism and Epilepsy in Patients With Tuberous Sclerosis Complex

2020 - FRONTIERS IN NEUROLOGY

Specchio, Nicola; Pietrafusa, Nicola; Trivisano, Marina; Moavero, Romina; De Palma, Luca; Ferretti, Alessandro; Vigevano, Federico; Curatolo, Paolo