Publicacións en colaboración con investigadores/as de Hospital Universitario Marqués de Valdecilla (8)

2020

  1. Bone status in patients with phenylketonuria: A systematic review

    Nutrients, Vol. 12, Núm. 7, pp. 1-15

2019

  1. Unraveling the effect of silent, intronic and missense mutations on VWF splicing: Contribution of next generation sequencing in the study of mRNA

    Haematologica, Vol. 104, Núm. 3, pp. 587-598

2018

  1. Role of multimeric analysis of von willebrand factor (VWF) in von willebrand disease (VWD) diagnosis: Lessons from the PCM-EVW-ES Spanish project

    PLoS ONE, Vol. 13, Núm. 6

2017

  1. Molecular and clinical profile of von willebrand disease in Spain (PCM-EVW-ES): Comprehensive genetic analysis by next-generation sequencing of 480 patients

    Haematologica, Vol. 102, Núm. 12, pp. 2005-2014

2016

  1. Molecular and clinical profile of von willebrand disease in spain (PCM-EVW-ES): Proposal for a new diagnostic paradigm

    Thrombosis and Haemostasis, Vol. 115, Núm. 1, pp. 40-50

2014

  1. A novel mutation in adamts13 of a child with upshaw-schulman syndrome

    Thrombosis and Haemostasis

  2. Inherited ADAMTS13 deficiency (Upshaw-Schulman syndrome): A short review

    Thrombosis Research, Vol. 134, Núm. 6, pp. 1171-1175

1996

  1. Antibodies to factor VIII in plasma of patients with hemophilia A and normal subjects

    Annals of Hematology, Vol. 72, Núm. 5, pp. 321-326