Investigador Ramon y Cajal
Investigador Ramón y Cajal
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Hospital Universitario de Salamanca
Salamanca, EspañaPublicaciones en colaboración con investigadores/as de Hospital Universitario de Salamanca (6)
2022
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Long-Read Sequencing Identifies the First Retrotransposon Insertion and Resolves Structural Variants Causing Antithrombin Deficiency
Thrombosis and Haemostasis, Vol. 122, Núm. 8, pp. 1369-1378
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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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Expanding the genetic spectrum of TUBB1-related thrombocytopenia
Blood Advances, Vol. 5, Núm. 24, pp. 5453-5467
2020
2019
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Identification of the first large intronic deletion responsible of type I antithrombin deficiency not detected by routine molecular diagnostic methods
British Journal of Haematology
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Multirefractory primary immune thrombocytopenia; targeting the decreased sialic acid content
Platelets, Vol. 30, Núm. 6, pp. 743-751