Publications by the researcher in collaboration with AINHOA GARCIA RIBES (3)

2013

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

    Journal of Molecular Diagnostics, Vol. 15, Núm. 5, pp. 723-729

2012

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

    BMC Medical Genetics, Vol. 13

2011

  1. A child with mild X-linked intellectual disability and a microduplication at Xp22.12 including RPS6KA3

    Pediatrics, Vol. 128, Núm. 4