Sfoglia per Rivista GENES
Vargenius-hzd allows accurate detection of rare homozygous or hemizygous deletions in targeted sequencing leveraging breadth of coverage
2021 Musacchia, F.; Karali, M.; Torella, A.; Laurie, S.; Policastro, V.; Pizzo, M.; Beltran, S.; Casari, G.; Nigro, V.; Banfi, S.
Variable expressivity of the beckwith-wiedemann syndrome in four pedigrees segregating loss-of-function variants of cdkn1c
2021 Sparago, A.; Cerrato, F.; Pignata, L.; Cammarata-Scalisi, F.; Garavelli, L.; Piscopo, C.; Vancini, A.; Riccio, A.
X-Linked Emery-Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers.
2019 Viggiano, E; Madej-Pilarczyk, A; Carboni, N; Picillo, E; Ergoli, M; Gaudio, Sd; Marchel, M; Nigro, G; Palladino, A; Politano, L.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Vargenius-hzd allows accurate detection of rare homozygous or hemizygous deletions in targeted sequencing leveraging breadth of coverage | 1-gen-2021 | Musacchia, F.; Karali, M.; Torella, A.; Laurie, S.; Policastro, V.; Pizzo, M.; Beltran, S.; Casari, G.; Nigro, V.; Banfi, S. | |
| Variable expressivity of the beckwith-wiedemann syndrome in four pedigrees segregating loss-of-function variants of cdkn1c | 1-gen-2021 | Sparago, A.; Cerrato, F.; Pignata, L.; Cammarata-Scalisi, F.; Garavelli, L.; Piscopo, C.; Vancini, A.; Riccio, A. | |
| X-Linked Emery-Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers. | 1-gen-2019 | Viggiano, E; Madej-Pilarczyk, A; Carboni, N; Picillo, E; Ergoli, M; Gaudio, Sd; Marchel, M; Nigro, G; Palladino, A; Politano, L. |
Legenda icone
- file ad accesso aperto
- file disponibili sulla rete interna
- file disponibili agli utenti autorizzati
- file disponibili solo agli amministratori
- file sotto embargo
- nessun file disponibile