Publicacións en colaboración con investigadores/as de Universitat de València (2)

2018

  1. Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations

    Journal of Medical Genetics, Vol. 55, Núm. 12, pp. 814-823

2012

  1. Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis

    Nature Genetics, Vol. 44, Núm. 3, pp. 254-256