VALLI, ROBERTO VINCENZO ORESTE
VALLI, ROBERTO VINCENZO ORESTE
DIPARTIMENTO DI GIURISPRUDENZA
Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman-Diamond Syndrome
2022-01-01 Taha, Ibrahim; Foroni, Selena; Valli, Roberto; Frattini, Annalisa; Roccia, Pamela; Porta, Giovanni; Zecca, Marco; Bergami, Elena; Cipolli, Marco; Pasquali, Francesco; Danesino, Cesare; Scotti, Claudia; Minelli, Antonella
Pleomorphic Parotid Adenoma in a Child Affected with Cri du Chat Syndrome: Clinical, Cytogenetic, and Molecular Analysis
2024-01-01 Danesino, Cesare; Biglioli, Federico; Moneghini, Laura; Valli, Roberto; Olivieri, Carla; Testa, Barbara; Baldo, Chiara; Malacarne, Michela; Guala, Andrea
Shwachman-Diamond syndrome: diagnosis, pathogenesis and prognosis
2017-01-01 Valli, ROBERTO VINCENZO ORESTE; Frattini, Annalisa; Minelli, Antonella
Shwachman‐Diamond syndrome with clonal interstitial deletion of the long arm of chromosome 20 in bone marrow: haematological features, prognosis and genomic instability
2019-01-01 Valli, Roberto; Minelli, Antonella; Galbiati, Marta; D'Amico, Giovanna; Frattini, Annalisa; Montalbano, Giuseppe; Khan, Abdul W.; Porta, Giovanni; Millefanti, Giorgia; Olivieri, Carla; Cipolli, Marco; Cesaro, Simone; Pasquali, Francesco; Danesino, Cesare; Cazzaniga, Gianni; Maserati, Emanuela
Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations
2019-01-01 Morini, Jacopo; Nacci, Lucia; Babini, Gabriele; Cesaro, Simone; Valli, Roberto; Ottolenghi, Andrea; Nicolis, Elena; Pintani, Emily; Maserati, Emanuela; Cipolli, Marco; Danesino, Cesare; Scotti, Claudia; Minelli, Antonella
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman-Diamond Syndrome | 1-gen-2022 | Taha, Ibrahim; Foroni, Selena; Valli, Roberto; Frattini, Annalisa; Roccia, Pamela; Porta, Giovanni; Zecca, Marco; Bergami, Elena; Cipolli, Marco; Pasquali, Francesco; Danesino, Cesare; Scotti, Claudia; Minelli, Antonella | |
| Pleomorphic Parotid Adenoma in a Child Affected with Cri du Chat Syndrome: Clinical, Cytogenetic, and Molecular Analysis | 1-gen-2024 | Danesino, Cesare; Biglioli, Federico; Moneghini, Laura; Valli, Roberto; Olivieri, Carla; Testa, Barbara; Baldo, Chiara; Malacarne, Michela; Guala, Andrea | |
| Shwachman-Diamond syndrome: diagnosis, pathogenesis and prognosis | 1-gen-2017 | Valli, ROBERTO VINCENZO ORESTE; Frattini, Annalisa; Minelli, Antonella | |
| Shwachman‐Diamond syndrome with clonal interstitial deletion of the long arm of chromosome 20 in bone marrow: haematological features, prognosis and genomic instability | 1-gen-2019 | Valli, Roberto; Minelli, Antonella; Galbiati, Marta; D'Amico, Giovanna; Frattini, Annalisa; Montalbano, Giuseppe; Khan, Abdul W.; Porta, Giovanni; Millefanti, Giorgia; Olivieri, Carla; Cipolli, Marco; Cesaro, Simone; Pasquali, Francesco; Danesino, Cesare; Cazzaniga, Gianni; Maserati, Emanuela | |
| Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations | 1-gen-2019 | Morini, Jacopo; Nacci, Lucia; Babini, Gabriele; Cesaro, Simone; Valli, Roberto; Ottolenghi, Andrea; Nicolis, Elena; Pintani, Emily; Maserati, Emanuela; Cipolli, Marco; Danesino, Cesare; Scotti, Claudia; Minelli, Antonella |