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Mostrati risultati da 61 a 80 di 166
Titolo Data di pubblicazione Autori File
Combined 17a-hydroxylase/17-20-lyase deficiency caused by Phe93Cys mutation in the CYP17 gene 1-gen-2002 SAVOIA, ANNA +
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness 1-gen-2003 SAVOIA, ANNA +
Spectrum of FANCA mutations in Italian Fanconi anemia patients: identification of six novel alleles and phenotypic characterization of S858R variant 1-gen-2003 SAVOIA, ANNA +
Genetics, clinical and pathological features of glomerulonephrites associated with mutations of non-muscle myosin IIA (Fechtner syndrome) 1-gen-2003 SAVOIA, ANNA +
Inherited thrombocytopenias: a proposed diagnostic algorithm from the Italian Gruppo di Studio delle Piastrine 1-gen-2003 SAVOIA, ANNA +
Basi Molecolari delle aplasie molecolari 1-gen-2004 SAVOIA, ANNA +
Correlation between the clinical phenotype of MYH9-related disease and tissue distribution of class II non-muscle myosin heavy chains 1-gen-2004 DI STAZIO, MARIATERESASAVOIA, ANNA +
Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients. 1-gen-2004 SAVOIA, ANNA +
Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of eleven novel alleles 1-gen-2004 SAVOIA, ANNA +
Nonmuscle Myosin Heavy-Chain Gene MYH14 Is Expressed in Cochlea and Mutated in Patients Affected by Autosomal Dominant Hearing Impairment (DFNA4) 1-gen-2004 GASPARINI, PAOLOSAVOIA, ANNA +
Effects of R216Q mutation of GATA-1 on erythropoisis and platelet production 1-gen-2004 SAVOIA, ANNA +
Inherited thrombocytopenias: molecular mechanisms 1-gen-2004 SAVOIA, ANNA +
Dissecting clinical findings: platelet defects segregate independently of deafness and cataract in a family affected by an apparent syndromic form of macrothrombocytopenia 1-gen-2005 GASPARINI, PAOLOSAVOIA, ANNA +
Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations 1-gen-2005 SAVOIA, ANNA +
Autosomal dominant thrombocytopenias with reduced expression of glycoprotein Ia. 1-gen-2006 SAVOIA, ANNA +
Unexplained recurrent venous thrombosis in a patient with MYH9-related disease 1-gen-2006 SAVOIA, ANNA +
Cord blood in vitro expanded CD41+ cells: identification of novel components of megakaryocytopoiesis 1-gen-2006 SAVOIA, ANNA +
Cleft lip with or without cleft palate: implication of the heavy chain of non-muscle myosin IIA 1-gen-2007 DI STAZIO, MARIATERESASAVOIA, ANNA +
A novel Leu153Ser mutation of the Fanconi anemia FANCD2 gene is associated with severe chemotherapy toxicity in a pediatric T-cell acute lymphoblastic leukemia. 1-gen-2007 SAVOIA, ANNA +
Why the disorder induced by GATA1 Arg216Gln mutation should be called "X-linked thrombocytopenia with thalassemia" rather than "X-linked gray platelet syndrome" 1-gen-2007 SAVOIA, ANNA +
Mostrati risultati da 61 a 80 di 166
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