Publicaciones en las que colabora con Maria Eugenia de la Morena Barrio (5)

2022

  1. 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

  2. Molecular Dissection of Structural Variations Involved in Antithrombin Deficiency

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

2021

  1. Expanding the genetic spectrum of TUBB1-related thrombocytopenia

    Blood Advances, Vol. 5, Núm. 24, pp. 5453-5467

2019

  1. Identification of the first large intronic deletion responsible of type I antithrombin deficiency not detected by routine molecular diagnostic methods

    British Journal of Haematology

2016

  1. Uniparental disomy causes deficiencies of vitamin K-dependent proteins

    Journal of Thrombosis and Haemostasis, Vol. 14, Núm. 12, pp. 2410-2418