Publicaciones en colaboración con investigadores/as de Greenwood Genetic Center (2)

2019

  1. Molecular and clinical characterization of a novel nonsense variant in exon 1 of the upf3b gene found in a large spanish basque family (Mrx82)

    Frontiers in Genetics, Vol. 10, Núm. OCT

2015

  1. Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

    Human Mutation, Vol. 36, Núm. 12, pp. 1197-1204