Publications by the researcher in collaboration with E. Pardal de la Mano (4)

2023

  1. Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis

    Blood, Vol. 141, Núm. 4, pp. 406-421

2022

  1. TRAF3 alterations are frequent in del-3′IGH chronic lymphocytic leukemia patients and define a specific subgroup with adverse clinical features

    American Journal of Hematology, Vol. 97, Núm. 7, pp. 903-914

2017

  1. Application of a molecular diagnostic algorithm for haemophilia A and B using next-generation sequencing of entire F8, F9 and VWF genes

    Thrombosis and Haemostasis, Vol. 117, Núm. 1, pp. 66-74

2016

  1. Design and application of a 23-gene panel by next-generation sequencing for inherited coagulation bleeding disorders

    Haemophilia, Vol. 22, Núm. 4, pp. 590-597