SORRENTINO, UGO
SORRENTINO, UGO
Dipartimento di Salute della Donna e del Bambino - SDB
Homozygous TNNI3 Mutations and Severe Early Onset Dilated Cardiomyopathy: Patient Report and Review of the Literature
2023 Sorrentino, U.; Gabbiato, I.; Canciani, C.; Calosci, D.; Rigon, C.; Zuccarello, D.; Cassina, M.
Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant
2023 Sorrentino, Ugo; Agosto, Caterina; Benini, Franca; Bertolin, Cinzia; Cassina, Matteo; Bonadies, Luca; Caroppo, Francesca; Fortina, Anna Belloni; Salviati, Leonardo
ZFHX4 truncating variant and orofacial clefting
2023 Sorrentino, U.; Calo, A. P.; Perin, M.; Veronese, P.; Salviati, L.; Fedrigo, M.
Epigenetics of pregnancy: looking beyond the DNA code
2022 Zuccarello, D.; Sorrentino, U.; Brasson, V.; Marin, L.; Piccolo, C.; Capalbo, A.; Andrisani, A.; Cassina, M.
DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature
2021 Sorrentino, U; Piccolo, C; Rigon, C; Brasson, V; Trevisson, E; Boaretto, F; Martini, A; Cassina, M
Epilepsy in NF1: Epidemiologic, genetic, and clinical features. a monocentric retrospective study in a cohort of 784 patients
2021 Sorrentino, U.; Bellonzi, S.; Mozzato, C.; Brasson, V.; Toldo, I.; Parrozzani, R.; Clementi, M.; Cassina, M.; Trevisson, E.
Genetics & Epigenetics of Hereditary Deafness: An Historical Overview
2021 Martini, Alessandro; Sorrentino, Flavia; Sorrentino, Ugo; Cassina, Matteo
The multiple roles of coenzyme Q in cellular homeostasis and their relevance for the pathogenesis of coenzyme Q deficiency
2021 Baschiera, E.; Sorrentino, U.; Calderan, C.; Desbats, M. A.; Salviati, L.
Optic pathway glioma in type 1 neurofibromatosis: Review of its pathogenesis, diagnostic assessment, and treatment recommendations
2019 Cassina, M.; Frizziero, L.; Opocher, E.; Parrozzani, R.; Sorrentino, U.; Viscardi, E.; Miglionico, G.; Midena, E.; Clementi, M.; Trevisson, E.