Publikationen, an denen er mitarbeitet Belén de la Morena Barrio (4)

2023

  1. Improvement of large copy number variant detection by whole genome nanopore sequencing

    Journal of Advanced Research, Vol. 50, pp. 145-158

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

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