Publicacións en colaboración con investigadores/as de Helmholtz Zentrum München (4)


  1. COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

    American Journal of Human Genetics, Vol. 96, Núm. 2, pp. 309-317


  1. COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

    Journal of Clinical Investigation, Vol. 121, Núm. 5, pp. 2013-2024