Publications in collaboration with researchers from 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