Sfoglia per Autore

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Mostrati risultati da 1 a 20 di 34
Titolo Data di pubblicazione Autori File
Molecular Genetic Testing of Fanconi Anemia: Experience of the Italian Research Group on Fanconi Anemia. 1-gen-2010 SAVOIA, ANNABOTTEGA, ROBERTA +
Clinical and genetic aspects Bernard-Soulier syndrome: searching for genotype/phenotype correlations. 1-gen-2011 SAVOIA, ANNADE ROCCO, DANIELADI STAZIO, MARIATERESABOTTEGA, ROBERTA +
Clinical and Laboratory Features of of 103 Patients From 42 Italian Families with Inherited Thrimbocytopenia Derived from the Monoallelic Ala156Val Mutation of GPIb Alpha (Bolzano Mutation) 1-gen-2011 BOTTEGA, ROBERTADE ROCCO, DANIELASAVOIA, ANNA +
Gray Platelet Syndrome: association of NBEAL2 mutations with thrombocytopenia and absence of alpha-granules in platelets 1-gen-2012 BOTTEGA, ROBERTADE ROCCO, DANIELASAVOIA, ANNA +
Identification of previously undescribed NBEAL2 gene mutations in a novel case of gray platelet syndrome 1-gen-2012 BOTTEGA, ROBERTASAVOIA, ANNA +
Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIb{alpha} (Bolzano mutation). 1-gen-2012 BOTTEGA, ROBERTADE ROCCO, DANIELASAVOIA, ANNA +
Molecular genetic testing of Fanconi anemia: experience of the Italian Research Group on Fanconi Anemia 1-gen-2013 DE ROCCO, DANIELAFALESCHINI, MICHELABOTTEGA, ROBERTASAVOIA, ANNA +
Mutazioni di ACTN1 in pazienti italiani 1-gen-2013 BOTTEGA, ROBERTAFALESCHINI, MICHELADE ROCCO, DANIELASAVOIA, ANNA +
Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α‐granule deficiency 1-gen-2013 BOTTEGA, ROBERTASAVOIA, ANNA +
Fanconi anemia patients are more susceptible to SV40 infection 1-gen-2013 COMAR, ManolaSAVOIA, ANNADE ROCCO, DANIELABOTTEGA, ROBERTA +
Fanconi anemia patients are more susceptible to infection with tumor virus SV40. 1-gen-2013 COMAR, ManolaDE ROCCO, DANIELABOTTEGA, ROBERTASAVOIA, 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 +
Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency 1-gen-2013 BOTTEGA, ROBERTADE ROCCO, DANIELASAVOIA, 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 +
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 +
Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia 1-gen-2014 SAVOIA, ANNABOTTEGA, ROBERTADE ROCCO, DANIELAFALESCHINI, MICHELA +
ACTN1 : identification of novel mutations in a cohort of Italian IMTP patients 1-gen-2014 FALESCHINI, MICHELABOTTEGA, ROBERTABAJ, GabrieleSAVOIA, ANNA +
Combining next generation sequencing with clinical studies to unravel novel inherited thrombocytopenias affecting half of the patients / identificazione di nuovi geni coinvolti nell'insorgenza di piastrinopenie ereditarie tramite tecnologie di sequenziamento di ultima generazione 1-gen-2015 BOTTEGA, ROBERTAFALESCHINI, MICHELABAJ, GabrieleSAVOIA, 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 +
Mostrati risultati da 1 a 20 di 34
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