Publicacións en colaboración con investigadores/as de Centro de Investigaciones Biológicas (2)

2020

  1. Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion Syndrome

    Frontiers in Genetics, Vol. 10

2016

  1. Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy

    European Journal of Human Genetics