PES, Valentina
PES, Valentina
Universita' degli Studi di SASSARI
Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature
2017-01-01 Lepri, Fr; Cocciadiferro, D; Augello, B; Alfieri, P; Pes, V; Vancini, A; Caciolo, C; Squeo, Gm; Malerba, N; Adipietro, I; Novelli, A; Sotgiu, S; Gherardi, R; Digilio, Mc; Dallapiccola, B; Merla, G
Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP
2019-01-01 Angius, Andrea; Uva, Paolo; Oppo, Manuela; Persico, Ivana; Onano, Stefano; Olla, Stefania; Pes, Valentina; Perria, Chiara; Cuccuru, Gianmauro; Atzeni, Rossano; Serra, Gigliola; Cucca, Francesco; Sotgiu, Stefano; Hennekam, Raoul C.; Crisponi, Laura
Long-term trajectory of acquired demyelinating syndrome and multiple sclerosis in children
2021-01-01 Eusebi, Anna; Zara, Pietro; Zarbo, Ignazio Roberto; Festa, Silvia; Dessì, Veronica; Pes, Valentina; Salis, Francesca; Sotgiu, Giovanni; Carta, Alessandra; Sotgiu, Stefano
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature | 1-gen-2017 | Lepri, Fr; Cocciadiferro, D; Augello, B; Alfieri, P; Pes, V; Vancini, A; Caciolo, C; Squeo, Gm; Malerba, N; Adipietro, I; Novelli, A; Sotgiu, S; Gherardi, R; Digilio, Mc; Dallapiccola, B; Merla, G | |
| Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP | 1-gen-2019 | Angius, Andrea; Uva, Paolo; Oppo, Manuela; Persico, Ivana; Onano, Stefano; Olla, Stefania; Pes, Valentina; Perria, Chiara; Cuccuru, Gianmauro; Atzeni, Rossano; Serra, Gigliola; Cucca, Francesco; Sotgiu, Stefano; Hennekam, Raoul C.; Crisponi, Laura | |
| Long-term trajectory of acquired demyelinating syndrome and multiple sclerosis in children | 1-gen-2021 | Eusebi, Anna; Zara, Pietro; Zarbo, Ignazio Roberto; Festa, Silvia; Dessì, Veronica; Pes, Valentina; Salis, Francesca; Sotgiu, Giovanni; Carta, Alessandra; Sotgiu, Stefano |