Publicacións en colaboración con investigadores/as de Karolinska Institute (3)

2015

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

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

2013

  1. Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

    Nature Genetics, Vol. 45, Núm. 9, pp. 1077-1082

2010

  1. How to catch all those mutations-the report of the third human variome project meeting, UNESCO Paris, May 2010

    Human Mutation, Vol. 31, Núm. 12, pp. 1374-1381