MENCARELLI, ANNALISA
MENCARELLI, ANNALISA
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Epileptogenic brain malformations and mutations in tubulin genes: A case report and review of the literature
2017 Mencarelli, Annalisa; Prontera, Paolo; Stangoni, Gabriela; Mencaroni, Elisabetta; Principi, Nicola; Esposito, Susanna
Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New "c.[5867T > A]+[=]"; "p.[Leu1956Gln]+[=]" NSD1 Missense Mutation and Complex Skin Hamartoma
2018 Mencarelli, A; Prontera, P; Mencarelli, A; Rogaia, D; Stangoni, G; Cecconi, M; Esposito, S.
Imerslund-Gräsbeck syndrome in an infant with a novel intronic variant in the AMN gene: A case report
2019 Pacitto, A; Prontera, P; Stangoni, G; Stefanelli, M; Ceppi, S; Cerri, C; Gurdo, G; Mencarelli, A; Esposito, S.
Pediatric sleep disturbances and treatment with melatonin
2019 Esposito, S; Laino, D; D'Alonzo, R; Mencarelli, A; Di Genova, L; Fattorusso, Antonella; Argentiero, A; Mencaroni, E
Report of a novel SHOX missense variant in a boy with short stature and his mother with Leri-Weill dyschondrosteosis
2018 Lucchetti, L; Prontera, P; Mencarelli, A; Sallicandro, E; Mencarelli, A; Cofini, M; Leonardi, A; Stangoni, Gioia; Penta, L; Esposito, S.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Epileptogenic brain malformations and mutations in tubulin genes: A case report and review of the literature | 2017 | Mencarelli, Annalisa; Prontera, Paolo; Stangoni, Gabriela; Mencaroni, Elisabetta; Principi, Nicola; Esposito, Susanna | |
| Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New "c.[5867T > A]+[=]"; "p.[Leu1956Gln]+[=]" NSD1 Missense Mutation and Complex Skin Hamartoma | 2018 | Mencarelli, A; Prontera, P; Mencarelli, A; Rogaia, D; Stangoni, G; Cecconi, M; Esposito, S. | |
| Imerslund-Gräsbeck syndrome in an infant with a novel intronic variant in the AMN gene: A case report | 2019 | Pacitto, A; Prontera, P; Stangoni, G; Stefanelli, M; Ceppi, S; Cerri, C; Gurdo, G; Mencarelli, A; Esposito, S. | |
| Pediatric sleep disturbances and treatment with melatonin | 2019 | Esposito, S; Laino, D; D'Alonzo, R; Mencarelli, A; Di Genova, L; Fattorusso, Antonella; Argentiero, A; Mencaroni, E | |
| Report of a novel SHOX missense variant in a boy with short stature and his mother with Leri-Weill dyschondrosteosis | 2018 | Lucchetti, L; Prontera, P; Mencarelli, A; Sallicandro, E; Mencarelli, A; Cofini, M; Leonardi, A; Stangoni, Gioia; Penta, L; Esposito, S. |