Publicacións en colaboración con investigadores/as de Hospital Universitario La Fe (7)

2024

  1. Pulmonary function and bronchopulmonary dysplasia classification: insights from the Spanish Registry

    European Journal of Pediatrics, Vol. 183, Núm. 9, pp. 3757-3766

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

  2. Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies

    Journal of the American College of Cardiology, Vol. 68, Núm. 22, pp. 2440-2451

2010

  1. The genomics serving pediatrics in the investigation of the multifactorial disease

    Acta Pediatrica Espanola, Vol. 68, Núm. 2, pp. 55-60