Publicacións en colaboración con investigadores/as de Hospital Universitari de Bellvitge (6)

2024

  1. Novel risk loci for COVID-19 hospitalization among admixed American populations

    eLife, Vol. 13

2023

  1. Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment

    Journal of Clinical Medicine, Vol. 12, Núm. 15

2022

  1. A multicriteria decision analysis (MCDA) applied to three long-term prophylactic treatments for hereditary angioedema in Spain

    Global and Regional Health Technology Assessment, Vol. 9, pp. 14-21

  2. Achondroplasia: Update on diagnosis, follow-up and treatment

    Anales de Pediatria, Vol. 97, Núm. 6, pp. 423-423.e10

  3. Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2

    International Journal of Molecular Sciences, Vol. 23, Núm. 15

2018

  1. Diagnosis and follow-up of patients with Hunter syndrome in Spain: A Delphi consensus

    Medicine (United States), Vol. 97, Núm. 29