Publicacións en colaboración con investigadores/as de Leiden University Medical Center (3)

2022

  1. The role of the electrocardiographic phenotype in risk stratification for sudden cardiac death in childhood hypertrophic cardiomyopathy

    European Journal of Preventive Cardiology, Vol. 29, Núm. 4, pp. 645-653

2020

  1. ALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant

    Molecular Genetics and Genomic Medicine, Vol. 8, Núm. 8

  2. Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity

    Journal of Molecular Diagnostics, Vol. 22, Núm. 9, pp. 1205-1215