Publicacions en col·laboració amb investigadors/es de Fundación Jiménez Díaz (5)

2024

  1. Targeted long-read sequencing identifies and characterizes structural variants in cases of inherited platelet disorders

    Journal of Thrombosis and Haemostasis, Vol. 22, Núm. 3, pp. 851-859

  2. Thrombotic risk and features of patients with inferior vena cava agenesis: a multicentre, retrospective, observational study

    The Lancet Haematology, Vol. 11, Núm. 8, pp. e606-e616

2017

  1. High levels of latent antithrombin in plasma from patients with antithrombin deficiency

    Thrombosis and Haemostasis, Vol. 117, Núm. 5, pp. 880-888

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

2013

  1. Compound heterozygosity involving Antithrombin Cambridge II (p.Ala416Ser) in antithrombin deficiency

    Thrombosis and Haemostasis