M. Martínez

MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males).

B. Gener, M. Botella, M. Tejada, 2013, The Journal of molecular diagnostics : JMD.

CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain

M. Tejada, F. Ramos, M. López-Aríztegui, 2012, BMC Medical Genetics.

Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.

F. Tort, A. Ribes, J. Montoya, 2012, Molecular genetics and metabolism.