Sfoglia per Autore
Familial Ohtahara syndrome due to a novel ARX gene mutation
2010 Giordano, L; Sartori, S; Russo, S; Accorsi, P; Galli, J.; Tiberti, A; Bettella, E; Marchi, M; Vignoli, A; Darra, F; Murgia, Alessandra; Bernardina, B. D.
A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome.
2009 Sartori, S; Di Rosa, G; Polli, R; Bettella, E; Tricomi, G; Tortorella, G; Murgia, Alessandra
Molecular diagnosis in Rett Sindrome: the experience of a referring centre for rare diseases in the north-est of Italy.
2007 Anesi, L; Polli, R; Martella, M; Leonardi, E; Bettella, E; Toldo, Irene; Battistella, PIER ANTONIO; Drigo, P; Sartori, Stefano; LAVERDA A., M; Murgia, Alessandra
Titolo | Data di pubblicazione | Autori | Rivista | Serie | Titolo libro |
---|---|---|---|---|---|
Familial Ohtahara syndrome due to a novel ARX gene mutation | 2010 | Sartori SBettella EMURGIA, ALESSANDRA + | AMERICAN JOURNAL OF MEDICAL GENETICS. PART A | - | - |
A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome. | 2009 | Sartori SPolli RBettella EMURGIA, ALESSANDRA + | AMERICAN JOURNAL OF MEDICAL GENETICS. PART A | - | - |
Molecular diagnosis in Rett Sindrome: the experience of a referring centre for rare diseases in the north-est of Italy. | 2007 | POLLI RLEONARDI EBETTELLA ETOLDO, IRENEBATTISTELLA, PIER ANTONIOSARTORI, STEFANOMURGIA, ALESSANDRA + | - | - | European Workin Group on Rett Sindrome |
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