Publicacións en colaboración con investigadores/as de Erasmus University Medical Center (2)

2015

  1. Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

    Nature Genetics, Vol. 47, Núm. 6, pp. 579-581

2009

  1. Capturing all disease-causing mutations for clinical and research use: Toward an effortless system for the Human Variome Project

    Genetics in Medicine