Publicaciones en colaboración con investigadores/as de University of Texas Southwestern Medical Center (2)

2018

  1. Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations

    Scientific Reports, Vol. 8, Núm. 1

2013

  1. Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies

    European Journal of Human Genetics, Vol. 21, Núm. 2, pp. 162-172