Publicacions en col·laboració amb investigadors/es de Radboud University Nijmegen Medical Centre (5)

2018

  1. Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders

    Haematologica, Vol. 103, Núm. 1, pp. 148-162

2017

  1. Transient desialylation in combination with a novel antithrombin deficiency causing a severe and recurrent thrombosis despite anticoagulation therapy

    Scientific Reports, Vol. 7

2016

  1. 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

2010

  1. Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm

    Nature Genetics, Vol. 42, Núm. 8, pp. 692-697

2003

  1. The -1C>T mutation in the annexin A5 gene does not affect plasma levels of annexin A5 [2] (multiple letters)

    Blood