Autori: Vezzoni P
| Naslov | Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis (Article) |
| Autori | 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 |
| Info | JOURNAL OF BONE AND MINERAL RESEARCH, (2003), vol. 18 br. 10, str. 1740-1747 |
| Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science Scopus |
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| Naslov | The mutational spectrum of human malignant autosomal recessive osteopetrosis (Article) |
| Autori | 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 |
| Info | HUMAN MOLECULAR GENETICS, (2001), vol. 10 br. 17, str. 1767-1773 |
| Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science Scopus |
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| Naslov | V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations (Article) |
| Autori | 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 |
| Info | BLOOD, (2001), vol. 97 br. 1, str. 81-88 |
| Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science Scopus |
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| Naslov | 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 (Article) |
| Autori | Santagata S Gomez CA Sobacchi Cristina Bozzi F Abinun Mario Pasic Srdjan S Cortes P Vezzoni P Villa A |
| Info | PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, (2000), vol. 97 br. 26, str. 14572-14577 |
| Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science Scopus |
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| Naslov | Prenatal diagnosis of RAG-deficient Omenn syndrome (Article) |
| Autori | Villa A Bozzi F Sobacchi Cristina Strina D Fasth A Pasic Srdjan S Notarangelo LD Vezzoni P |
| Info | PRENATAL DIAGNOSIS, (2000), vol. 20 br. 1, str. 56-59 |
| Ispravka | Web of Science Članak Elečas Rang časopisa Citati: Web of Science Scopus |
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