Publicacións en colaboración con investigadores/as de Instituto de Salud Carlos III (4)

2024

  1. Phenotypic Expression and Outcomes in Patients with the p.Arg301Gln GLA Variant in Anderson-Fabry Disease

    International journal of molecular sciences, Vol. 25, Núm. 8

2022

  1. Correlation between Blunted Nocturnal Decrease in Diastolic Blood Pressure and Oxidative Stress: An Observational Study

    Antioxidants, Vol. 11, Núm. 12

  2. Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies

    Journal of Clinical Medicine, Vol. 11, Núm. 10

2021

  1. Characterization of a novel splicing variant in acylglycerol kinase (Agk) associated with fatal sengers syndrome

    International Journal of Molecular Sciences, Vol. 22, Núm. 24