Publicacións en colaboración con investigadores/as de Commonwealth Scientific and Industrial Research Organisation (2)

2013

  1. Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

    Neurogenetics, Vol. 14, Núm. 1, pp. 11-22

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