Maria Eugenia
De La Morena Barrio
Investigador "Ramon y Cajal"
Universitat Autònoma de Barcelona
Barcelona, EspañaPublicaciones en colaboración con investigadores/as de Universitat Autònoma de Barcelona (6)
2023
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Impact of genetic structural variants in factor XI deficiency: identification, accurate characterization, and inferred mechanism by long-read sequencing
Journal of Thrombosis and Haemostasis, Vol. 21, Núm. 7, pp. 1779-1788
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
2019
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Archeogenetics of F11 p.Cys38Arg: A 5400-year-old mutation identified in different southwestern European countries
Blood
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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
2017
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High incidence of FXI deficiency in a Spanish town caused by 11 different mutations and the first duplication of F11: Results from the Yecla study
Haemophilia, Vol. 23, Núm. 6, pp. e488-e496