Publications by authors named "Nienke Wieskamp"

14Publications

Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.

Hum Mol Genet 2015 Apr 11;24(7):2000-10. Epub 2014 Dec 11.

Women's and Children's Health Research Institute, North Adelaide and Discipline of Medicine, School of Paediatrics and Reproductive Health, Robinson Research Institute and, School of Molecular and Biomedical Sciences, The University of Adelaide, Adelaide, SA, Australia,

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http://hmg.oxfordjournals.org/content/early/2015/01/07/hmg.d
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddu614
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http://dx.doi.org/10.1093/hmg/ddu614DOI Listing
April 2015

A de novo paradigm for mental retardation.

Nat Genet 2010 Dec 14;42(12):1109-12. Epub 2010 Nov 14.

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ng.712DOI Listing
December 2010

Accurate distinction of pathogenic from benign CNVs in mental retardation.

PLoS Comput Biol 2010 Apr 22;6(4):e1000752. Epub 2010 Apr 22.

Radboud University Nijmegen Medical Centre, Department of Human Genetics, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1371/journal.pcbi.1000752DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2858682PMC
April 2010