Maria Eugenia
De La Morena Barrio
Investigador "Ramon y Cajal"
Instituto de Salud Carlos III
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Instituto de Salud Carlos III (8)
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
2021
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N-glycosylation as a tool to study antithrombin secretion, conformation, and function
International Journal of Molecular Sciences, Vol. 22, Núm. 2, pp. 1-12
2019
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
2016
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Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect
Journal of Thrombosis and Haemostasis, Vol. 14, Núm. 8, pp. 1549-1560
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Uniparental disomy causes deficiencies of vitamin K-dependent proteins
Journal of Thrombosis and Haemostasis, Vol. 14, Núm. 12, pp. 2410-2418