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American Journal of Medical Genetics. Part A|April 30, 2026
Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross-Sectional Study and Systematic Literature ReviewGiulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, et al.Epilepsia|July 17, 2025
Epilepsy expands the phenotype of L-arginine:glycine amidinotransferase deficiencyAlessandro Ferretti, Roberta Battini, Olga Gagliardo, et al.Orphanet Journal of Rare Diseases|March 8, 2024
Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 childrenAnna Fetta, Francesco Toni, Ilaria Pettenuzzo, et al.American Journal of Medical Genetics. Part A|January 17, 2013
Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotypeDuccio Maria Cordelli, Livia Garavelli, Salvatore Savasta, et al.Journal of Neurology|September 6, 2021
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature reviewStefania Della Vecchia, Alessandra Tessa, Claudia Dosi, et al.Pageof 4