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Mostrati risultati da 21 a 40 di 46
Titolo Data di pubblicazione Autori File
Fanconi anemia patients are more susceptible to infection with tumor virus SV40. 1-gen-2013 COMAR, ManolaDE ROCCO, DANIELABOTTEGA, ROBERTASAVOIA, ANNA +
ANKRD26-related thrombocytopenia and myeloid malignancies 1-gen-2013 GNAN, CHIARADE ROCCO, DANIELASAVOIA, ANNA +
Apparent genotype–phenotype mismatch in a patient with MYH9-related disease: When the exception proves the rule 1-gen-2013 DE ROCCO, DANIELASAVOIA, ANNA +
Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency 1-gen-2013 BOTTEGA, ROBERTADE ROCCO, DANIELASAVOIA, ANNA +
MYH9-related disease: five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations 1-gen-2013 DE ROCCO, DANIELABOTTEGA, ROBERTASAVOIA, ANNA +
Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics. 1-gen-2014 DE ROCCO, DANIELANICCHIA, ELENASAVOIA, ANNA +
Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology. 1-gen-2014 DE ROCCO, DANIELABOTTEGA, ROBERTANICCHIA, ELENASAVOIA, ANNA +
Unusual splice site mutations disrupt FANCA exon 8 definition. 1-gen-2014 DE ROCCO, DANIELASAVOIA, ANNA +
Spectrum of the mutations in bernard-soulier syndrome. 1-gen-2014 SAVOIA, ANNADE ROCCO, DANIELA +
Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia 1-gen-2014 SAVOIA, ANNABOTTEGA, ROBERTADE ROCCO, DANIELAFALESCHINI, MICHELA +
MYH9-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations. 1-gen-2014 DE ROCCO, DANIELANICCHIA, ELENASAVOIA, ANNA +
FANCA nel mitocondrio: qualche ruolo diretto? 1-gen-2015 BOTTEGA, ROBERTADE ROCCO, DANIELABORTUL, RobertaFALESCHINI, MICHELANICCHIA, ELENAZWEYER, MARINASAVOIA, ANNA +
New pharmacological targets in Fanconi anemia / Nuovi bersagli farmacologici nell'anemia di Fanconi 1-gen-2015 FALESCHINI, MICHELABOTTEGA, ROBERTADE ROCCO, DANIELASAVOIA, ANNA +
R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17 1-gen-2015 DE ROCCO, DANIELASAVOIA, ANNA +
Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia 1-gen-2015 SAVOIA, ANNAGNAN, CHIARADE ROCCO, DANIELA +
Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology 1-gen-2015 NICCHIA, ELENAGRECO, CHIARADE ROCCO, DANIELAPECILE, VANNAPALLAVICINI, AlbertoTORELLI, LUCIOSAVOIA, ANNA +
Somatic, hematologic phenotype, long-term outcome, and effect of hematopoietic stem cell transplantation. An analysis of 97 Fanconi anemia patients from the Italian national database on behalf of the Marrow Failure Study Group of the AIEOP (Italian Association of Pediatric Hematology–Oncology) 1-gen-2016 DE ROCCO, DANIELASAVOIA, ANNAVERZEGNASSI, FEDERICO +
Molecular diagnosis of thrombocytopenia-absent radius syndrome using next-generation sequencing 1-gen-2016 NICCHIA, ELENADE ROCCO, DANIELASAVOIA, ANNA +
Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia 1-gen-2016 DE ROCCO, DANIELAGNAN, CHIARAFALESCHINI, MICHELASAVOIA, ANNA +
Mutations of RUNX1 in families with inherited thrombocytopenia 1-gen-2017 DE ROCCO, DANIELABOTTEGA, ROBERTAGNAN, CHIARASAVOIA, ANNA +
Mostrati risultati da 21 a 40 di 46
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