MARÍA ROCÍO
BENITO SÁNCHEZ
Chercheuse dans le période 2000-2023
Vicente
Vicente García
Publications dans lesquelles il/elle collabore avec Vicente Vicente García (7)
2023
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Platelet transcriptome analysis in patients with germline RUNX1 mutations
Journal of Thrombosis and Haemostasis, Vol. 21, Núm. 5, pp. 1352-1365
2022
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Molecular Dissection of Structural Variations Involved in Antithrombin Deficiency
Journal of Molecular Diagnostics, Vol. 24, Núm. 5, pp. 462-475
2021
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A novel genetic variant in PTGS1 affects N-glycosylation of cyclooxygenase-1 causing a dominant-negative effect on platelet function and bleeding diathesis
American Journal of Hematology
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Expanding the genetic spectrum of TUBB1-related thrombocytopenia
Blood Advances, Vol. 5, Núm. 24, pp. 5453-5467
2019
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Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing
Annals of Medicine, Vol. 51, Núm. 2, pp. 141-148
2018
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Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders
Haematologica, Vol. 103, Núm. 1, pp. 148-162
2017
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Wiskott–Aldrich syndrome in a child presenting with macrothrombocytopenia
Platelets, Vol. 28, Núm. 4, pp. 417-420