Sfoglia per Rivista
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders
2019-01-01 Negri, Gloria; Magini, Pamela; Milani, Donatella; Crippa, Milena; Biamino, Elisa; Piccione, Maria; Sotgiu, Stefano; Perrìa, Chiara; Vitiello, Giuseppina; Frontali, Marina; Boni, Antonella; Di Fede, Elisabetta; Gandini, Maria Chiara; Colombo, Elisa Adele; Bamshad, Michael J.; Nickerson, Deborah A.; Smith, Joshua D.; Loddo, Italia; Finelli, Palma; Seri, Marco; Pippucci, Tommaso; Larizza, Lidia; Gervasini, Cristina
Genetic variation in prehistoric Sardinia
2007-01-01 Caramelli, D; Vernesi, C; Sanna, S; Sampietro, L; Lari, M; Castri, L; Vona, G; Floris, R; Francalacci, Paolo; Tykot, R; Casoli, A; Bertranpetit, J; Lalueza Fox, C; Bertorelle, G; Barbujani, G.
Geographic homogeneity and non-equilibrium patterns of mtDNA sequences in Tuscany, Italy
1996-01-01 Bertorelle, G; Calafell, F; Francalacci, Paolo; Bertranpetit, J; Barbujani, G.
Human gene mutations gene symbol: BRCA2 small insertion in breast cancer
1999-01-01 Pisano, M; Persico, I; Casu, G; Palomba, G; Palmieri, G; Cossu, A; Tanda, Francesco; Pirastu, M.
Presence of telomeric and subtelomeric sequences at the fusion points of ring Chromosomes indicates that the ring syndrome is caused by ring instability
1993-01-01 Pezzolo, A; Gimelli, G; Cohen, A; Lavaggetto, A; Romano, C; Fogu, Giuseppa; Zuffardi, O.
The myoblast defect identified in Duchenne muscular dystrophy is not a primary expression of the DMD mutation. Clonal analysis of myoblasts from five double heterozygotes for two X-linked loci: DMD and G6PD
1986-01-01 Webster, C; Filippi, G; Rinaldi, A; Mastropaolo, C; Tondi, Massimo Giorgio; Siniscalco, M; Blau, Hm
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders | 1-gen-2019 | Negri, Gloria; Magini, Pamela; Milani, Donatella; Crippa, Milena; Biamino, Elisa; Piccione, Maria; Sotgiu, Stefano; Perrìa, Chiara; Vitiello, Giuseppina; Frontali, Marina; Boni, Antonella; Di Fede, Elisabetta; Gandini, Maria Chiara; Colombo, Elisa Adele; Bamshad, Michael J.; Nickerson, Deborah A.; Smith, Joshua D.; Loddo, Italia; Finelli, Palma; Seri, Marco; Pippucci, Tommaso; Larizza, Lidia; Gervasini, Cristina | |
| Genetic variation in prehistoric Sardinia | 1-gen-2007 | Caramelli, D; Vernesi, C; Sanna, S; Sampietro, L; Lari, M; Castri, L; Vona, G; Floris, R; Francalacci, Paolo; Tykot, R; Casoli, A; Bertranpetit, J; Lalueza Fox, C; Bertorelle, G; Barbujani, G. | |
| Geographic homogeneity and non-equilibrium patterns of mtDNA sequences in Tuscany, Italy | 1-gen-1996 | Bertorelle, G; Calafell, F; Francalacci, Paolo; Bertranpetit, J; Barbujani, G. | |
| Human gene mutations gene symbol: BRCA2 small insertion in breast cancer | 1-gen-1999 | Pisano, M; Persico, I; Casu, G; Palomba, G; Palmieri, G; Cossu, A; Tanda, Francesco; Pirastu, M. | |
| Presence of telomeric and subtelomeric sequences at the fusion points of ring Chromosomes indicates that the ring syndrome is caused by ring instability | 1-gen-1993 | Pezzolo, A; Gimelli, G; Cohen, A; Lavaggetto, A; Romano, C; Fogu, Giuseppa; Zuffardi, O. | |
| The myoblast defect identified in Duchenne muscular dystrophy is not a primary expression of the DMD mutation. Clonal analysis of myoblasts from five double heterozygotes for two X-linked loci: DMD and G6PD | 1-gen-1986 | Webster, C; Filippi, G; Rinaldi, A; Mastropaolo, C; Tondi, Massimo Giorgio; Siniscalco, M; Blau, Hm |
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