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Mario Benvenuto
Mario Benvenuto
IRCCS Casa Sollievo della Sofferenza
在 operapadrepio.it 的电子邮件经过验证
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Vitamin supplements in the Era of SARS-Cov2 pandemic
CA Michele, B Angel, L Valeria, M Teresa, C Giuseppe, M Giovanni, ...
GSC Biological and Pharmaceutical Sciences 11 (2), 007-019, 2020
402020
Whole Exome Sequencing Reveals a Novel AUTS2 In-Frame Deletion in a Boy with Global Developmental Delay, Absent Speech, Dysmorphic Features, and …
P Palumbo, E Di Muro, M Accadia, M Benvenuto, MC Di Giacomo, ...
Genes 12 (2), 229, 2021
112021
Novel STAG1 Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder
E Di Muro, P Palumbo, M Benvenuto, M Accadia, MC Di Giacomo, ...
Genes 12 (8), 1116, 2021
62021
Association of CSF and PET markers of neurodegeneration with electroclinical progression in Lafora disease
G d'Orsi, A Farolfi, L Muccioli, O Palumbo, P Palumbo, S Modoni, V Allegri, ...
Frontiers in Neurology 14, 1202971, 2023
32023
Identification of a Novel FOXP1 Variant in a Patient with Hypotonia, Intellectual Disability, and Severe Speech Impairment
M Benvenuto, P Palumbo, E Di Muro, CS Perrotta, T Mazza, ...
Genes 14 (10), 1958, 2023
12023
The Biallelic Inheritance of Two Novel SCN1A Variants Results in Developmental and Epileptic Encephalopathy Responsive to Levetiracetam
G Dinoi, E Conte, O Palumbo, M Benvenuto, MA Coppola, P Palumbo, ...
Biomedicines 12 (8), 1698, 2024
2024
Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c. 186G> A in KMT2E Gene
M Benvenuto, S Cesarini, G Severi, E Ambrosini, A Russo, M Seri, ...
Genes 15 (4), 430, 2024
2024
Biallelic inheritance of SCNA1 variants: clinical, genetics and functional study of an Italian family
G Dinoi, G Falcicchio, E Conte, O Palumbo, M Benvenuto, P Palumbo, ...
EPILEPSIA 64, 385-385, 2023
2023
Progressi in cardio-oncologia
M Sperandeo, M Benvenuto, A Benvenuto
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