R. Rubio

Mutation Prevalence of Cerebral Cavernous Malformation Genes in Spanish Patients

G. Izquierdo, A. Martinez-Mir, A. Gónzalez-Meneses, 2014, PloS one.

Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism

R. Horvath, D. Pongratz, L. Møller, 2005, Journal of Inherited Metabolic Disease.

Clinical and Molecular Study of the Extracellular Matrix Protein 1 Gene in a Spanish Family with Lipoid Proteinosis

A. Martinez-Mir, J. Ríos-Martín, M. Lucas, 2014, Journal of clinical neurology.