Publicacións en colaboración con investigadores/as de Complexo Hospitalario Universitario de Santiago (6)

2023

  1. Maturity-onset diabetes of the young in a large Portuguese cohort

    Acta Diabetologica, Vol. 60, Núm. 1, pp. 83-91

2022

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

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

  2. Transcriptomic analysis of patients with clinical suspicion of maturity-onset diabetes of the young (MODY) with a negative genetic diagnosis

    Orphanet journal of rare diseases, Vol. 17, Núm. 1, pp. 105

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

  2. Utility of gene panels for the diagnosis of inborn errors of metabolism in a metabolic reference center

    Genes, Vol. 12, Núm. 8

2013

  1. Differential clinical characteristics and prognosis of intraventricular conduction defects in patients with chronic heart failure

    European Journal of Heart Failure, Vol. 15, Núm. 8, pp. 877-884