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 · 875 citations

Urology, Signal Transduction, Molecular Physiology +15

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 · 529 citations

Urology, Mendelian Disorder, Genetic Disorder +6

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 · 471 citations · Full text

Dna Sequencing, Sequencing, Next-generation Sequencing +9

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 · 466 citations

Genetic Disorder, Genetics, Common Inversion Polymorphism +9

Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia

Wouter M. Tiel Groenestege, Stéphanie Thebault, Jenny van der Wijst et al. · Journal of Clinical Investigation · 2007 · 359 citations · Full text