E Peeters

Localization of the gene for Cowden disease to chromosome 10q22–23

Marcel Nelen, G.W. Padberg, E Peeters et al. · Nature Genetics · 1996 · 669 citations

Cowden Disease, Genetics, Pathogenesis +5

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

Gijs W.E. Santen, Emmelien Aten, Yu Sun et al. · Nature Genetics · 2012 · 348 citations · Full text

Chromatin, Genome Instability, Swi/snf Chromatin +10

Novel PTEN mutations in patients with Cowden disease: absence of clear genotype–phenotype correlations

Marcel Nelen, Hannie Kremer, Irene B. M. Konings et al. · European Journal of Human Genetics · 1999 · 342 citations · Full text

Cowden Disease, Genetics, Pathogenesis +5

Course and outcome of childhood epilepsy: A 15‐year follow‐up of the Dutch Study of Epilepsy in Childhood

Ada T. Geerts, Willem F. Arts, Hans Stroink et al. · Epilepsia · 2010 · 252 citations · Full text

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

Tony Roscioli, Erik‐Jan Kamsteeg, Karen Buysse et al. · Nature Genetics · 2012 · 209 citations · Full text

Mendelian Disorder, Genetic Disorder, Inherited Metabolic Disease +9