Sfoglia per Rivista ORPHANET JOURNAL OF RARE DISEASES
Epidemiology of systemic sclerosis: a multi-database population-based study in Tuscany (Italy)
2021-01-01 Coi, Alessio; Barsotti, Simone; Santoro, Michele; Almerigogna, Fabio; Bargagli, Elena; Caproni, Marzia; Emmi, Giacomo; Frediani, Bruno; Guiducci, Serena; Matucci Cerinic, Marco; Mosca, Marta; Parronchi, Paola; Prediletto, Renato; Selvi, Enrico; Simonini, Gabriele; Tavoni, Antonio Gaetano; Bianchi, Fabrizio; Pierini, Anna
Gene therapy in rare diseases: The benefits and challenges of developing a patient-centric registry for Strimvelis in ADA-SCID
2018-01-01 Stirnadel-Farrant, Heide; Kudari, Mahesh; Garman, Nadia; Imrie, Jessica; Chopra, Bikramjit; Giannelli, Stefania; Gabaldo, Michela; Corti, Ambra; Zancan, Stefano; Aiuti, Alessandro; Cicalese, Maria Pia; Batta, Rohit; Appleby, Jonathan; Davinelli, Mario; Ng, Pauline
Genotype-dependency of butyrate efficacy in children with congenital chloride diarrhea
2013-01-01 BERNI CANANI, Roberto; Gianluca, Terrin; Ausilia, Elce; Vincenza, Pezzella; Peter Heinz, Erian; Annalisa, Pedrolli; Chiara, Centenari; Amato, Felice; Tomaiuolo, Rossella; Calignano, Antonio; Troncone, Riccardo; Giuseppe, Castaldo
Nuclear envelopathies: a complex LINC between nuclear envelope and pathology
2017-01-01 Janin, A; Bauer, D; Ratti, F; Millat, G; Mejat, A
Recommendations from the European Working Group for Value Assessment and Funding Processes in Rare Diseases (ORPH-VAL)
2017-01-01 Annemans, ; Aymé, ; Le, Cam; Facey, ; Gunther, ; Nicod, ; Reni, M; Roux, ; J., -L.; Schlander, ; Taylor, ; Tomino, ; Torrent-Farnell, ; Upadhyaya, ; Hutchings, ; Le, Dez
The empowerment of translational research: lessons from laminopathies
2012-01-01 Benedetti, S; Bernasconi, P; Bertini, E; Biagini, E; Boriani, G; Capanni, C; Carboni, N; Cenacchi, G; Columbaro, M; D'Adamo, M; D'Amico, A; D'Apice, Mr; Fontana, M; Gambineri, A; Lattanzi, G; Liguori, R; Maraldi, Nm; Mazzanti, L; Mercuri, E; Mongini, T; Morandi, Lo; Neri, I; Nigro, G; Novelli, G; Ortolani, M; Pasquali, R; Pini, A; Petrini, S; Politano, L; Previtali, S; Pucci, L; Rapezzi, C; Ricci, G; Rodolico, C; Sbraccia, P; Scarano, E; Siciliano, G; Squarzoni, S; Toscano, A; Vercelli, L; Ziacchi, M.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Epidemiology of systemic sclerosis: a multi-database population-based study in Tuscany (Italy) | 1-gen-2021 | Coi, Alessio; Barsotti, Simone; Santoro, Michele; Almerigogna, Fabio; Bargagli, Elena; Caproni, Marzia; Emmi, Giacomo; Frediani, Bruno; Guiducci, Serena; Matucci Cerinic, Marco; Mosca, Marta; Parronchi, Paola; Prediletto, Renato; Selvi, Enrico; Simonini, Gabriele; Tavoni, Antonio Gaetano; Bianchi, Fabrizio; Pierini, Anna | |
| Gene therapy in rare diseases: The benefits and challenges of developing a patient-centric registry for Strimvelis in ADA-SCID | 1-gen-2018 | Stirnadel-Farrant, Heide; Kudari, Mahesh; Garman, Nadia; Imrie, Jessica; Chopra, Bikramjit; Giannelli, Stefania; Gabaldo, Michela; Corti, Ambra; Zancan, Stefano; Aiuti, Alessandro; Cicalese, Maria Pia; Batta, Rohit; Appleby, Jonathan; Davinelli, Mario; Ng, Pauline | |
| Genotype-dependency of butyrate efficacy in children with congenital chloride diarrhea | 1-gen-2013 | BERNI CANANI, Roberto; Gianluca, Terrin; Ausilia, Elce; Vincenza, Pezzella; Peter Heinz, Erian; Annalisa, Pedrolli; Chiara, Centenari; Amato, Felice; Tomaiuolo, Rossella; Calignano, Antonio; Troncone, Riccardo; Giuseppe, Castaldo | |
| Nuclear envelopathies: a complex LINC between nuclear envelope and pathology | 1-gen-2017 | Janin, A; Bauer, D; Ratti, F; Millat, G; Mejat, A | |
| Recommendations from the European Working Group for Value Assessment and Funding Processes in Rare Diseases (ORPH-VAL) | 1-gen-2017 | Annemans, ; Aymé, ; Le, Cam; Facey, ; Gunther, ; Nicod, ; Reni, M; Roux, ; J., -L.; Schlander, ; Taylor, ; Tomino, ; Torrent-Farnell, ; Upadhyaya, ; Hutchings, ; Le, Dez | |
| The empowerment of translational research: lessons from laminopathies | 1-gen-2012 | Benedetti, S; Bernasconi, P; Bertini, E; Biagini, E; Boriani, G; Capanni, C; Carboni, N; Cenacchi, G; Columbaro, M; D'Adamo, M; D'Amico, A; D'Apice, Mr; Fontana, M; Gambineri, A; Lattanzi, G; Liguori, R; Maraldi, Nm; Mazzanti, L; Mercuri, E; Mongini, T; Morandi, Lo; Neri, I; Nigro, G; Novelli, G; Ortolani, M; Pasquali, R; Pini, A; Petrini, S; Politano, L; Previtali, S; Pucci, L; Rapezzi, C; Ricci, G; Rodolico, C; Sbraccia, P; Scarano, E; Siciliano, G; Squarzoni, S; Toscano, A; Vercelli, L; Ziacchi, M. |
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