Publications dans lesquelles il/elle collabore avec BLANCA GENER QUEROL (4)

2020

  1. Targeted next-generation sequencing in patients with suggestive X-linked intellectual disability

    Genes, Vol. 11, Núm. 1

2016

  1. The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome

    Clinical Genetics, Vol. 89, Núm. 6, pp. 733-738

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. Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

    European Journal of Medical Genetics, Vol. 55, Núm. 6-7, pp. 404-413