Dorien J.M. Peters

<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

Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease

Jeroen Roelfsema, Stefan J. White, Yavuz Ariyürek et al. · The American Journal of Human Genetics · 2005 · 467 citations · Full text

Rubinstein-taybi Syndrome, Mendelian Disorder, Genetic Disorder +10

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome

Johannes G. Dauwerse, Jill Dixon, Saskia Seland et al. · Nature Genetics · 2010 · 364 citations

Mendelian Disorder, Treacher Collins, Rna Polymerases +9