Publicaciones en colaboración con investigadores/as de Universitat Pompeu Fabra (4)

2020

  1. Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity

    Journal of Molecular Diagnostics, Vol. 22, Núm. 9, pp. 1205-1215

2018

  1. Clinical implication of FMR1 intermediate alleles in a Spanish population

    Clinical Genetics, Vol. 94, Núm. 1, pp. 153-158

2011

  1. Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes

    European Journal of Human Genetics, Vol. 19, Núm. 8, pp. 921-923

2007

  1. X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation

    BMC Genomics, Vol. 8