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

Medicine, Genetics, Molecular Genetics +17

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

Life Sciences, Genetics, Molecular Genetics +5

Unified Criteria for Ultrasonographic Diagnosis of ADPKD

York Pei, James Obaji, Annie Dupuis et al. · Journal of the American Society of Nephrology · 2008 · 751 citations · Full text

Medicine, Genetics, Nephrology +17

Comparison of phenotypes of polycystic kidney disease types 1 and 2

Nick Hateboer, Marjan A. van Dijk, Nadja Bogdanova et al. · The Lancet · 1999 · 625 citations

Medicine, Genetics, Nephrology +12

Mutations in ABCC6 cause pseudoxanthoma elasticum

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

Life Sciences, Genetics, Molecular Genetics +3