ZUFFARDI, ORSETTA
ZUFFARDI, ORSETTA
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Assigning single clinical features to their disease-locus in large deletions: the example of chromosome 1q23-25 deletion syndrome
2020-01-01 Fichera, Marco; Saccuzzo, Lucia; Bertuzzo, Sara; Marelli, Susan; Cavallini, Anna; Romaniello, Romina; Kocova, Mirjana; Citterio, Andrea; Fanizza, Isabella; Trabacca, Antonio; Pagliazzi, Angelica; Guarducci, Silvia; Giglio, Sabrina; Zuffardi, Orsetta; Bonaglia, Maria Clara
Low-level complex mosaic with multiple cell lines affecting the 18q21.31q21.32 region in a patient with de novo 18q terminal deletion
file da validare2022-01-01 Bonaglia, Maria Clara; Fichera, Marco; Marelli, Susan; Romaniello, Romina; Zuffardi, Orsetta
Targeted next-generation sequencing identifies the disruption of the SHANK3 and RYR2 genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDermid syndrome
2020-01-01 Bonaglia, M. C.; Bertuzzo, S.; Ciaschini, A. M.; Discepoli, G.; Castiglia, L.; Romaniello, R.; Zuffardi, O.; Fichera, M.; Fichera, M.
The embryo battle against adverse genomes: Are de novo terminal deletions the rescue of unfavorable zygotic imbalances?
file da validare2022-01-01 Zuffardi, Orsetta; Fichera, Marco; Bonaglia, Maria Clara
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Assigning single clinical features to their disease-locus in large deletions: the example of chromosome 1q23-25 deletion syndrome | 1-gen-2020 | Fichera, Marco; Saccuzzo, Lucia; Bertuzzo, Sara; Marelli, Susan; Cavallini, Anna; Romaniello, Romina; Kocova, Mirjana; Citterio, Andrea; Fanizza, Isabella; Trabacca, Antonio; Pagliazzi, Angelica; Guarducci, Silvia; Giglio, Sabrina; Zuffardi, Orsetta; Bonaglia, Maria Clara | |
| Low-level complex mosaic with multiple cell lines affecting the 18q21.31q21.32 region in a patient with de novo 18q terminal deletion | 1-gen-2022 | Bonaglia, Maria Clara; Fichera, Marco; Marelli, Susan; Romaniello, Romina; Zuffardi, Orsetta | file da validare |
| Targeted next-generation sequencing identifies the disruption of the SHANK3 and RYR2 genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDermid syndrome | 1-gen-2020 | Bonaglia, M. C.; Bertuzzo, S.; Ciaschini, A. M.; Discepoli, G.; Castiglia, L.; Romaniello, R.; Zuffardi, O.; Fichera, M.; Fichera, M. | |
| The embryo battle against adverse genomes: Are de novo terminal deletions the rescue of unfavorable zygotic imbalances? | 1-gen-2022 | Zuffardi, Orsetta; Fichera, Marco; Bonaglia, Maria Clara | file da validare |