Arjan de Brouwer

NANS-mediated synthesis of sialic acid is required for brain and skeletal development

Clara van Karnebeek, Luisa Bonafé, Xiao‐Yan Wen et al. · Nature Genetics · 2016 · 163 citations · Full text

Developmental Biology, Biochemistry, Brain Development +7

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

Jiddeke M. van de Kamp, Ofir T. Betsalel, Saadet Mercimek‐Mahmutoglu et al. · Journal of Medical Genetics · 2013 · 159 citations · Full text

Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar Ataxia

Sascha Vermeer, Alexander Hoischen, Rowdy Meijer et al. · The American Journal of Human Genetics · 2010 · 147 citations · Full text

Autosomal-recessive Cerebellar Ataxia, Mendelian Disorder, Neurogenomics +7

Disruption of the Podosome Adaptor Protein TKS4 (SH3PXD2B) Causes the Skeletal Dysplasia, Eye, and Cardiac Abnormalities of Frank-Ter Haar Syndrome

Zafar Iqbal, Pilar Cejudo-Martı́n, Arjan de Brouwer et al. · The American Journal of Human Genetics · 2010 · 101 citations · Full text

Frank-ter Haar Syndrome, Transcriptional Regulation, Genetic Disorder +7

Mice without phosphatidylcholine transfer protein have no defects in the secretion of phosphatidylcholine into bile or into lung airspaces

Ardy van Helvoort, Arjan de Brouwer, Roelof Ottenhoff et al. · Proceedings of the National Academy of Sciences · 1999 · 69 citations · Full text