Sfoglia per Autore

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Mostrati risultati da 1 a 11 di 11
Titolo Data di pubblicazione Autori File
Inherited thrombocytopenia frequently diagnosed in Italy 1-gen-2013 DE ROCCO, DANIELANICCHIA, ELENASAVOIA, ANNA +
Stable expression of mutant FANCA: is there any correlation with mild Fanconi anemia clinical? 1-gen-2014 BOTTEGA, ROBERTAZWEYER, MARINAVALENCIC, ERICABORTUL, RobertaNICCHIA, ELENACARUSO, PAOLAGRECO, CHIARASAVOIA, ANNA +
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 +
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 +
Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics. 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 +
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 +
Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing 1-gen-2015 NICCHIA, ELENAGRECO, CHIARABOTTEGA, ROBERTAFALESCHINI, MICHELABONIN, SerenaSAVOIA, ANNA +
Molecular diagnosis of thrombocytopenia-absent radius syndrome using next-generation sequencing 1-gen-2016 NICCHIA, ELENADE ROCCO, DANIELASAVOIA, ANNA +
Gray platelet syndrome: Novel mutations of the NBEAL2 gene 1-gen-2017 BOTTEGA, ROBERTANICCHIA, ELENASAVOIA, ANNA +
Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia 1-gen-2018 Bottega, RobertaNicchia, ElenaDe Rocco, DanielaFaleschini, MichelaSavoia, Anna +
Mostrati risultati da 1 a 11 di 11
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