Leiden University Medical Center-ko ikertzaileekin lankidetzan egindako argitalpenak (6)

2025

  1. Characterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants

    Journal of the American Society of Nephrology, Vol. 36, Núm. 6, pp. 1056-1071

2023

  1. A second update on mapping the human genetic architecture of COVID-19

    Nature

2009

  1. Unified criteria for ultrasonographic diagnosis of ADPKD

    Journal of the American Society of Nephrology, Vol. 20, Núm. 1, pp. 205-212

2003

  1. Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease

    Journal of the American Society of Nephrology, Vol. 14, Núm. 5, pp. 1164-1174

2000

  1. Location of mutations within the PKD2 gene influences clinical outcome

    Kidney International

1997

  1. A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2)

    American Journal of Human Genetics, Vol. 61, Núm. 3, pp. 547-555