Publications by authors named "Arjan de Brouwer"

120Publications

Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in and .

Clin Case Rep 2020 Dec 30;8(12):2476-2482. Epub 2020 Jul 30.

Unidade de Genética Molecular Centro de Genética Médica Jacinto de Magalhães (CGM) Centro Hospitalar Universitário do Porto (CHUP) Porto Portugal.

View Article and Find Full Text PDF
December 2020

De Novo Variants in EEF2 Cause a Neurodevelopmental Disorder with Benign External Hydrocephalus.

Hum Mol Genet 2020 Dec 23. Epub 2020 Dec 23.

Department of Human Genetics, Radboud university medical center and Donders Institute for Brain, Cognition and Behavior, 6525 GA Nijmegen, The Netherlands.

View Article and Find Full Text PDF
December 2020

Two Compound Heterozygous Variants in Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20.

Front Genet 2020 24;11:1038. Epub 2020 Sep 24.

Unidade de Genética Molecular, Centro de Genética Médica Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUP), Porto, Portugal.

View Article and Find Full Text PDF
September 2020

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.

Am J Hum Genet 2020 07 17;107(1):164-172. Epub 2020 Jun 17.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.

View Article and Find Full Text PDF
July 2020

A de novo variant in the X-linked gene CNKSR2 is associated with seizures and mild intellectual disability in a female patient.

Mol Genet Genomic Med 2019 10 15;7(10):e00861. Epub 2019 Aug 15.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

View Article and Find Full Text PDF
October 2019

The differential effect of clarithromycin and azithromycin on induction of macrolide resistance in .

Future Microbiol 2019 06 4;14:749-755. Epub 2019 Jul 4.

Department of Medical Microbiology & Radboudumc Center for Infectious Diseases, Radboud University Medical Center, Gelderland, The Netherlands.

View Article and Find Full Text PDF
June 2019

Certainty-based marking in a formative assessment improves student course appreciation but not summative examination scores.

BMC Med Educ 2019 May 31;19(1):178. Epub 2019 May 31.

Department of Animal Ecology and Physiology, Institute for Water and Wetland Research, Radboud University, Nijmegen, The Netherlands.

View Article and Find Full Text PDF
May 2019

Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23).

Neurol Genet 2018 08 1;4(4):e262. Epub 2018 Aug 1.

Genome Damage and Stability Centre (G.Z-V., K.W.C.), University of Sussex, Falmer, Brighton, United Kingdom; Wellcome Centre for Mitochondrial Research (F.B., K.T., L.H., R.T.), Institute of Neuroscience, Newcastle University, Tyne, United Kingdom; Sussex Drug Discovery Centre (S.W.), University of Sussex, Falmer, Brighton, United Kingdom; Department of Human Genetics (A.P.M.d.B.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; and Medical Genetics (A.P.M.d.B., D.N.), Ochsner Health Center for Children, New Orleans, LA.

View Article and Find Full Text PDF
August 2018