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Преглед према Аутор Sobacchi, Cristina
Приказ резултата 1 до 6 од 6
Година | Наслов | Аутор(и) | Тип резултата | Мп-кат. |
---|---|---|---|---|
2003 | Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis | Frattini, A; Pangrazio, A; Susani, L; Sobacchi, Cristina; Mirolo, M; Abinun, Mario; Andolina, M; Flanagan, A; Horwitz, EM; Mihci, E;
Notarangelo, LD; Ramenghi, U; Teti, A; van, Hove JLK; Vujic, Dragana S; Young, T; Albertini, A; Orchard, PJ; Vezzoni, P; Villa, A;
| Научни чланак | 21aM21a - Рад у међ. часопису изузетних вредности |
2000 | N-terminal RAG1 frameshift mutations in Omenn's syndrome: Internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains | Santagata, S; Gomez, CA; Sobacchi, Cristina; Bozzi, F; Abinun, Mario; Pasic, Srdjan S; Cortes, P; Vezzoni, P; Villa, A | Научни чланак | 21aM21a - Рад у међ. часопису изузетних вредности |
2000 | Prenatal diagnosis of RAG-deficient Omenn syndrome | Villa, A; Bozzi, F; Sobacchi, Cristina; Strina, D; Fasth, A; Pasic, Srdjan S; Notarangelo, LD; Vezzoni, P | Научни чланак | 21M21 - Рад у врхунском међ. часопису |
2014 | Severe Combined Immunodeficiency in Serbia and Montenegro Between Years 1986 and 2010: A Single-Center Experience | Pašić, Srđan ; Vujić, Dragana ; Veljković, Dobrila; Slavkovic, Bojana; Mostarica-Stojkovic, Marija ; Minić, Predrag ; Minic, Aleksandra; Ristic, Goran; Giliani, Silvia; Villa, Anna;
Sobacchi, Cristina; Lilić, Desa; Abinun, Mario;
| Научни чланак | 21M21 - Рад у врхунском међ. часопису |
2001 | The mutational spectrum of human malignant autosomal recessive osteopetrosis | Sobacchi, Cristina; Frattini, A; Orchard, PJ; Porras, O; Tezcan, I; Andolina, M; Babul-Hirji, R; Baric, I; Canham, N; Chitayat, D;
Dupuis-Girod, S; Ellis, I; Etzioni, A; Fasth, A; Fisher, A; Gerritsen, B; Gulino, V; Horwitz, EM; Klamroth, V; Lanino, E; Mirolo, M; Musio, A; Matthijs, G; Nonomaya, S; Notarangelo, LD; Ochs, HD; Furga, AS; Valiaho, J; van, Hove JLK; Vihinen, M; Vujic, Dragana S; Vezzoni, P; Villa, A;
| Научни чланак | 21aM21a - Рад у међ. часопису изузетних вредности |
2001 | V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations | Villa, A; Sobacchi, Cristina; Notarangelo, LD; Bozzi, F; Abinun, Mario; Abrahamsen, TG; Arkwright, PD; Baniyash, M; Brooks, EG; Conley, ME;
Cortes, P; Duse, M; Fasth, A; Filipovic, Aleksandra M; Infante, AJ; Jones, A; Mazzolari, E; Muller, SM; Pasic, Srdjan S; Rechavi, G; Sacco, MG; Santagata, S; Schroeder, ML; Seger, R; Strina, D; Ugazio, A; Valiaho, J; Vihinen, M; Vogler, LB; Ochs, H; Vezzoni, P; Friedrich, W; Schwarz, K;
| Научни чланак | 21aM21a - Рад у међ. часопису изузетних вредности |