Michela Faleschini
IRCCS materno infantile Burlo Garofolo
24 papers found
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Thrombocytopenia 4 (THC4): Six novel families with mutations of the cytochrome c gene
UploadPhenotype reversion as “natural gene therapy” in Fanconi anemia by a gene conversion event
Download from doi.orgETV6-related thrombocytopenia: dominant negative effect of mutations as common pathogenic mechanism
Download from haematologica.orgLoss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia
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