Martijn H. Breuning

<b> <i>PKD2</i> </b> , a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein

Toshio Mochizuki, Guanqing Wu, Tomohito Hayashi et al. · Science · 1996 · 1.4K citations

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

Fred Petrif, Rachel H. Giles, Hans G. Dauwerse et al. · Nature · 1995 · 1.2K citations

Transcriptional Regulation, Rubinstein-taybi Syndrome, Mendelian Disorder +7

Unified Criteria for Ultrasonographic Diagnosis of ADPKD

York Pei, James Obaji, Annie Dupuis et al. · Journal of the American Society of Nephrology · 2008 · 734 citations · Full text

Comparison of phenotypes of polycystic kidney disease types 1 and 2

Nick Hateboer, Marjan A. van Dijk, Nadja Bogdanova et al. · The Lancet · 1999 · 621 citations

Glomerulonephritis, Urology, Renal Disease +10

Mutations in ABCC6 cause pseudoxanthoma elasticum

Arthur A. Bergen, Astrid S. Plomp, Ellen J. Schuurman et al. · Nature Genetics · 2000 · 597 citations

Somatic Variant, Natural Sciences, Genetics +7