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Titolo Data di pubblicazione Autori File
A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman 1-gen-2017 GIROTTO, GIORGIAGIANGREGORIO, TANIAGASPARINI, PAOLOROMEO, GIOVANNI +
ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia 1-gen-2018 Faleschini, MichelaGiangregorio, TaniaBottega, RobertaSavoia, Anna +
Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim 1-gen-2018 De Rocco, DanielaGiangregorio, TaniaSavoia, Anna +
A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene 1-gen-2018 DE ROCCO, DANIELAGIANGREGORIO, TANIASAVOIA, ANNA +
MYH9 -Related Thrombocytopenia: Four Novel Variants Affecting the Tail Domain of the Non-Muscle Myosin Heavy Chain IIA Associated with a Mild Clinical Evolution of the Disorder 1-gen-2019 de Rocco, DanielaGiangregorio, TaniaSavoia, Anna +
High throughput sequencing analysis for the molecular diagnosis of Inherited Thrombocytopenias 18-mar-2019 GIANGREGORIO, TANIA
Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation 1-gen-2022 Faleschini, MichelaPapa, NicoleGiangregorio, TaniaSavoia, AnnaBottega, Roberta +
Mostrati risultati da 1 a 7 di 7
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