Publications en collaboration avec des chercheurs de Hospitais da Universidade de Coimbra (6)

2017

  1. Defects of splicing in antithrombin deficiency

    Research and Practice in Thrombosis and Haemostasis, Vol. 1, Núm. 2, pp. 216-222

2016

  1. Antithrombin Dublin (p.Val30Glu): A relatively common variant with moderate thrombosis risk of causing transient antithrombin deficiency

    Thrombosis and Haemostasis, Vol. 116, Núm. 1, pp. 146-154

  2. 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

2014

  1. Proteomic analysis of platelet N-glycoproteins in PMM2-CDG patients

    Thrombosis Research, Vol. 133, Núm. 3, pp. 412-417

2013

  1. GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients

    Orphanet Journal of Rare Diseases, Vol. 8, Núm. 1

2012

  1. Congenital disorder of glycosylation (PMM2-CDG) in a patient with antithrombin deficiency and severe thrombophilia

    Journal of Thrombosis and Haemostasis