Publicacións en colaboración con investigadores/as de Johns Hopkins University School of Medicine (4)

2007

  1. Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease

    Molecular Genetics and Metabolism, Vol. 92, Núm. 1-2, pp. 160-167

1999

  1. Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease

    Journal of the American Society of Nephrology, Vol. 10, Núm. 11, pp. 2342-2351

1997

  1. An integrated genetic and physical map of the autosomal recessive polycystic kidney disease region

    Genomics, Vol. 41, Núm. 3, pp. 463-466

  2. An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection

    Human Molecular Genetics, Vol. 6, Núm. 9, pp. 1473-1481