SAVOIA, ANNA

SAVOIA, ANNA  

Dipartimento Universitario Clinico di Scienze mediche, chirurgiche e della salute  

Settore MED/03 - Genetica Medica  

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Titolo Data di pubblicazione Autori File
A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defect. 1-gen-2010 DE ROCCO, DANIELABIANCO, ANNA MONICA ROSARIASAVOIA, ANNA +
A new case of acromegaloid facial appearance (AFA) syndrome with an expanded phenotype 1-gen-2000 GASPARINI, PAOLOSAVOIA, 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 +
Abnormal cytoplasmic extensions associated with active αIIbβ3 are probably the cause for macrothrombocytopenia in Glanzmann thrombasthenia-like syndrome 1-gen-2015 MESSINEO, STEFANIASAVOIA, ANNA +
Absence of CYCS mutations in a large Italian cohort of patients with inherited thrombocytopenias of unknown origin. 1-gen-2009 SAVOIA, ANNADE ROCCO, DANIELA +
ACTN1 : identification of novel mutations in a cohort of Italian IMTP patients 1-gen-2014 FALESCHINI, MICHELABOTTEGA, ROBERTABAJ, GabrieleSAVOIA, ANNA +
ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia 1-gen-2018 Faleschini, MichelaGiangregorio, TaniaBottega, RobertaSavoia, Anna +
ACTN1-related thrombocytopenia: Identification of novel families for phenotypic characterization 1-gen-2015 BOTTEGA, ROBERTAFALESCHINI, MICHELABAJ, GabrieleSAVOIA, ANNA +
Alteration of liver enzymes is a feature of the MYH9-related disease syndrome 1-gen-2012 SAVOIA, ANNA +
Amplification of DNA from epithelial cells in urine 1-gen-1989 GASPARINI, PAOLOSAVOIA, ANNA +
An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p 1-gen-1999 SAVOIA, ANNA +
Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia 1-gen-2014 SAVOIA, ANNABOTTEGA, ROBERTADE ROCCO, DANIELAFALESCHINI, MICHELA +
Anemia di Fanconi: recenti progressi nella caratterizazione dei meccanismi patogenetici 1-gen-2002 SAVOIA, 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 +
Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients. 1-gen-2004 SAVOIA, ANNA +
Association of complementation group and mutation type with clinical outcome in Fanconi anemia. European Fanconi Anemia Research Group. 1-gen-2000 SAVOIA, ANNA +
Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome 1-gen-2001 SAVOIA, ANNA +
Autosomal dominant thrombocytopenias with reduced expression of glycoprotein Ia. 1-gen-2006 SAVOIA, ANNA +
Basi Molecolari delle aplasie molecolari 1-gen-2004 SAVOIA, ANNA +