Publicaciones en colaboración con investigadores/as de Institut d'Investigacions Biomèdiques August Pi i Sunyer (2)

2019

  1. Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology

    Human Mutation, Vol. 40, Núm. 10, pp. 1700-1712

2013

  1. Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria

    Molecular Genetics and Metabolism, Vol. 110, Núm. 1-2, pp. 73-77