نتائج البحث - Fabio Corsolini
- يعرض 1 - 7 نتائج من 7
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1
Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis حسب Mariarosaria Donnarumma, Stefano Regis, Barbara Tappino, Camillo Rosano, Stefania Assereto, Fabio Corsolini, Maja Di Rocco, Mirella Filocamo
منشور في 2007Artigo -
2
Cell Line and DNA Biobank From Patients Affected by Genetic Diseases حسب Mirella Filocamo, Raffaella Mazzotti, Fabio Corsolini, Marina Stroppiano, Giorgia Stroppiana, Serena Grossi, Susanna Lualdi, Barbara Tappino, Federica Lanza, Sara Galotto, Roberta Biancheri
منشور في 2014Artigo -
3
Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome حسب 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
منشور في 2016Artigo -
4
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease حسب 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
منشور في 2010Artigo -
5
Immunological profile of Fanconi anemia: A multicentric retrospective analysis of 61 patients حسب 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
منشور في 2013Artigo -
6
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... حسب 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
منشور في 2016Artigo -
7
Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology حسب 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
منشور في 2014Artigo
أدوات البحث:
موضوعات ذات صلة
Biology
Genetics
Gene
Medicine
DNA repair
Fanconi anemia
Internal medicine
Missense mutation
Mutation
Biochemistry
Bone marrow
Bone marrow failure
Chemistry
FANCA
Frameshift mutation
Haematopoiesis
Immunology
In vitro
Molecular biology
Nonsense mutation
Stem cell
Allele
Anemia
Antibody
Aplastic anemia
Biobank
Biorepository
Calcium
Calcium metabolism
Cathepsin K