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Mostrati risultati da 1 a 9 di 9
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
ZFHX4 truncating variant and orofacial clefting 2023 Sorrentino U.Salviati L. + AMERICAN JOURNAL OF MEDICAL GENETICS. PART A - -
Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant 2023 Sorrentino, UgoCassina, MatteoBonadies, LucaCaroppo, FrancescaFortina, Anna BelloniSalviati, Leonardo + CLINICAL GENETICS - -
Homozygous TNNI3 Mutations and Severe Early Onset Dilated Cardiomyopathy: Patient Report and Review of the Literature 2023 Sorrentino U.Rigon C.Cassina M. + GENES - -
Epigenetics of pregnancy: looking beyond the DNA code 2022 Sorrentino U.Brasson V.Marin L.Capalbo A.Andrisani A.Cassina M. + JOURNAL OF ASSISTED REPRODUCTION AND GENETICS - -
Genetics & Epigenetics of Hereditary Deafness: An Historical Overview 2021 Martini, AlessandroSorrentino, FlaviaSorrentino, UgoCassina, Matteo AUDIOLOGY RESEARCH - -
DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature 2021 Sorrentino, UPiccolo, CRigon, CBrasson, VTrevisson, EMartini, ACassina, M + AUDIOLOGY RESEARCH - -
Epilepsy in NF1: Epidemiologic, genetic, and clinical features. a monocentric retrospective study in a cohort of 784 patients 2021 Sorrentino U.Bellonzi S.Brasson V.Toldo I.Parrozzani R.Cassina M.Trevisson E. + CANCERS - -
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. FREE RADICAL BIOLOGY & MEDICINE - -
Optic pathway glioma in type 1 neurofibromatosis: Review of its pathogenesis, diagnostic assessment, and treatment recommendations 2019 Cassina M.Frizziero L.Parrozzani R.Sorrentino U.Viscardi E.Miglionico G.Midena E.Clementi M.Trevisson E. + CANCERS - -
Mostrati risultati da 1 a 9 di 9
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