Publications en collaboration avec des chercheurs de Hospital Virgen de la Arrixaca (4)

2020

  1. Molecular characterization of Spanish patients with MECP2 duplication syndrome

    Clinical Genetics, Vol. 97, Núm. 4, pp. 610-620

2014

  1. Molecular testing for fragile X: Analysis of 5062 tests from 1105 fragile X families - Performed in 12 clinical laboratories in Spain

    BioMed Research International, Vol. 2014

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