José María
Bastida Bermejo
Profesor Asociado CC. Salud
Complejo Hospitalario de Toledo
Toledo, EspañaPublicaciones en colaboración con investigadores/as de Complejo Hospitalario de Toledo (8)
2024
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Targeted long-read sequencing identifies and characterizes structural variants in cases of inherited platelet disorders
Journal of Thrombosis and Haemostasis, Vol. 22, Núm. 3, pp. 851-859
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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Src-related thrombocytopenia: a fine line between a megakaryocyte dysfunction and an immune-mediated disease
Blood Advances, Vol. 6, Núm. 17, pp. 5244-5255
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
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Inherited platelet disorders: An updated overview
International Journal of Molecular Sciences, Vol. 22, Núm. 9
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Management of acquired hemophilia A: results from the Spanish registry
Blood Advances, Vol. 5, Núm. 19, pp. 3821-3829
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