Nine V.A.M. Knoers

Requirement of Human Renal Water Channel Aquaporin-2 for Vasopressin-dependent Concentration of Urine

Peter M.T. Deen, Marian Verdijk, Nine V.A.M. Knoers et al. · Science · 1994 · 876 citations

Medicine, Molecular Genetics, Nephrology +17

Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure

Ralf Birkenhäger, Edgar A. Otto, Maria J. Schürmann et al. · Nature Genetics · 2001 · 538 citations

Medicine, Nephrology, Neurology +9

Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal Abnormalities

Lisenka E.L.M. Vissers, Bert B.A. de Vries, Kazutoyo Osoegawa et al. · The American Journal of Human Genetics · 2003 · 473 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism

David A. Koolen, Lisenka E.L.M. Vissers, Rolph Pfundt et al. · Nature Genetics · 2006 · 471 citations

Life Sciences, Genetics, Molecular Genetics +16

Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

Anne Blanchard, Detlef Böckenhauer, Davide Bolignano et al. · Kidney International · 2016 · 369 citations · Full text

Medicine, Nephrology, Pediatrics +17