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Autore [ Titolo] Tipo Anno Filtri: Autore è Faleschini, Michela [Clear All Filters]
ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia. Br J Haematol 2018;183(2):276-288.
. ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization. Blood 2015;125(5):869-72.
. Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia. Haematologica 2014;99(8):1387-94.
. Clinical and pathogenetic features of ETV6 related thrombocytopenia with predisposition to acute lymphoblastic leukemia. Haematologica 2016;
. Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing. Birth Defects Res A Clin Mol Teratol 2015;103(12):1003-1010.
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Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia. Haematologica 2018;103(3):417-426.
. Loss-of-function mutations in cause a new form of inherited thrombocytopenia. Blood 2019;133(12):1346-1357.
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