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

2015

  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

  2. Meis1 coordinates a network of genes implicated in eye development and microphthalmia

    Development (Cambridge), Vol. 142, Núm. 17, pp. 3009-3020

2011

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

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