檢索結果 - Fabio Corsolini
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Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome 由 Silvia Ravera, Carlo Dufour, Simone Cesaro, Roberta Bottega, Michela Faleschini, Paola Cuccarolo, Fabio Corsolini, Cesare Usai, Marta Columbaro, Marco Cipolli, Anna Savoia, Paolo Degan, Enrico Cappelli
出版 2016Artigo -
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Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease 由 Barbara Tappino, Roberta Biancheri, Matthew Mort, Stefano Regis, Fabio Corsolini, Andrea Rossi, Marina Stroppiano, Susanna Lualdi, Agata Fiumara, Bruno Bembi, Maja Di Rocco, D.N. Cooper, Mirella Filocamo
出版 2010Artigo -
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Immunological profile of Fanconi anemia: A multicentric retrospective analysis of 61 patients 由 Elisabeth T Korthof, Johanna Svahn, Régis Peffault de Latour, Paola Terranova, Hélène Moins‐Teisserenc, Gèrard Socié, Jean Soulier, Marleen Kok, Robbert G. M. Bredius, Maarten van Tol, Els C. M. Jol-Van Der Zijde, Angela Pistorio, Fabio Corsolini, Alessia Parodi, Florinda Battaglia, Vito Pistoia, Carlo Dufour, Enrico Cappelli
出版 2013Artigo -
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Somatic, hematologic phenotype, long‐term outcome, and effect of hematopoietic stem cell transplantation. An analysis of 97 Fanconi anemia patients from the Italian national databa... 由 Johanna Svahn, Francesca Bagnasco, Enrico Cappelli, Daniela Onofrillo, Silvia Caruso, Fabio Corsolini, Daniela De Rocco, Anna Savoia, Daniela Longoni, Marta Pillon, Nicoletta Marra, Ugo Ramenghi, Piero Farruggia, Anna Locasciulli, Carmen Addari, Carla Cerri, Elena Mastrodicasa, Gabriella Casazza, Federico Verzegnassi, Francesca Riccardi, Riccardo Haupt, Angelica Barone, Simone Cesaro, Chiara Cugno, Carlo Dufour
出版 2016Artigo -
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Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology 由 Daniela De Rocco, Roberta Bottega, Enrico Cappelli, Simona Cavani, Maria Criscuolo, Elena Nicchia, Fabio Corsolini, Chiara Greco, Adriana Borriello, Johanna Svahn, Marta Pillon, Cristina Mecucci, Gabriella Casazza, Federico Verzegnassi, Chiara Cugno, Anna Locasciulli, Piero Farruggia, Daniela Longoni, U. Ramenghi, Walter Barberi, Fábio C. Tucci, Silverio Perrotta, Paola Grammatico, Helmut Hanenberg, Fulvio Della Ragione, Carlo Dufour, Anna Savoia
出版 2014Artigo
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Biology
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DNA repair
Fanconi anemia
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Missense mutation
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Bone marrow
Bone marrow failure
Chemistry
FANCA
Frameshift mutation
Haematopoiesis
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In vitro
Molecular biology
Nonsense mutation
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Cathepsin K