Publicaciones en las que colabora con Javier Corral De La Calle (76)

2022

  1. Contact pathway in surgical and transcatheter aortic valve replacement

    Frontiers in Cardiovascular Medicine, Vol. 9

  2. Dissecting the transcriptional program of phosphomannomutase 2-deficient cells: Lymphoblastoide B cell lines as a valuable model for congenital disorders of glycosylation studies

    Glycobiology, Vol. 32, Núm. 2, pp. 84-100

  3. Full-length antithrombin frameshift variant with aberrant C-terminus causes endoplasmic reticulum retention with a dominant-negative effect

    JCI Insight, Vol. 7, Núm. 19

  4. 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

  5. Molecular Dissection of Structural Variations Involved in Antithrombin Deficiency

    Journal of Molecular Diagnostics, Vol. 24, Núm. 5, pp. 462-475

  6. Molecular and clinical characterization of transient antithrombin deficiency: A new concept in congenital thrombophilia

    American Journal of Hematology, Vol. 97, Núm. 2, pp. 216-225

  7. New SERPINC1 gene mutations in patients with antithrombin deficiency: Antithrombin Lodz I, II, III, and IV

    Polish Archives of Internal Medicine, Vol. 132, Núm. 1

  8. Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays

    Blood, Vol. 140, Núm. 2, pp. 140-151

  9. Using Machine Learning for Predicting the Effect of Mutations in the Initiation Codon

    IEEE Journal of Biomedical and Health Informatics, Vol. 26, Núm. 11, pp. 5750-5756