Research output

Research output per year 1997 2009 2011 2014 2017 2019 2021 2023 2024

• 110 Article
• 23 Poster
• 9 Abstract
• 5 Comment/Letter to the editor
• 7 More
  • 4 Review article
  • 2 Meeting Abstract
  • 1 Doctoral thesis 1 (Research UU / Graduation UU)

Research output per year

Research output per year

Search results

• 2010

  Rare structural genomic variants in nonsyndromic epileptic encephalopathies with and without MRI-detectable structural brain abnormalities

  Translated title of the contribution: Rare structural genomic variants in nonsyndromic epileptic encephalopathies with and without MRI-detectable structural brain abnormalitiesHelbig, I., Swinkels, M. E. M., Moller, R. S., Aten, E., Brilstra, E. H., Ostertag, P., Reutlinger, C., Caliebe, A., Ruivenkamp, C., Eleveld, M. J., van ´t Slot, R., Post, J. G., Terhal, P. A., Boor, R., von Spiczak, S., Muhle, H., Klitten, L. L., van Nieuwenhuizen, O., Breuning, M., Stephani, U., & 5 othersTommerup, N., Hjalgrim, H., Lindhout, D., Koeleman, B. P. C. & Poot, M., 27 Jun 2010, p. 107-108. 2 p.

  Research output: Contribution to conference › Abstract › Other research output
• 2009

  Novel loci and candidate genes for autism spectrum disorder detected by SNP array based segmental aneuploidy screening

  Translated title of the contribution: Novel loci and candidate genes for autism spectrum disorder detected by SNP array based segmental aneuploidy screeningvan Daalen, E., Verbeek, N. E., Ozgen, H. M., Vorstman, J. A. S., Jonge, M., van ´t Slot, R., Brilstra, E. H., Freitag, C. M., Hochstenbach, R. & Poot, M., 2009, p. 93. 1 p.

  Research output: Contribution to conference › Abstract › Other research output
• 2008

  Frequent 22q11 aberrations in patients with non-syndromic autism spectrum disorders shown by SNP array-based segmental aneuploidy screening

  Translated title of the contribution: Frequent 22q11 aberrations in patients with non-syndromic autism spectrum disorders shown by SNP array-based segmental aneuploidy screeningPoot, M., Verbeek, N. E., van ´t Slot, R., Nelen, M. R., van der Zwaag, B., van Daalen, E., de Jonge, M. V., Staal, W. G., Vorstman, J. A. S., Ippel, P. F., van den Boogaard, M. J. H., Terhal, P. A., Beemer, F. A., van der Smagt, J. J., Brilstra, E. H., Visser, G., van Engeland, H., Burbach, J. P. H., Ploos van Amstel, J. K. & Hochstenbach, R., 31 May 2008, p. 135. 1 p.

  Research output: Contribution to conference › Abstract › Other research output
• 2007

  Frequent 22q11 aberrations in patients with non-syndromic autism spectrum disorders shown by SNP array based segmental aneuploidy screening

  Translated title of the contribution: Frequent 22q11 aberrations in patients with non-syndromic autism spectrum disorders shown by SNP array based segmental aneuploidy screeningPoot, M., Verbeek, N. E., van ´t Slot, R., Nelen, M. R., van der Zwaag, B., van Daalen, E., Staal, W. G., Vorstman, J. A. S., de Jonge, M. V., Ippel, P. F., van den Boogaard, M. J. H., Beemer, F. A., van der Smagt, J. J., Brilstra, E. H., Jalali, G. R., Emmanuel, B. S., van Engeland, H., Burbach, J. P. H., Ploos van Amstel, J. K. & Hochstenbach, P. F. R., 2007, p. 374. 1 p.

  Research output: Contribution to conference › Abstract › Other research output
• 2006

  Ion channel mutations in inheritable idiopathic epilepsy

  Translated title of the contribution: Ion channel mutations in inheritable idiopathic epilepsyvan Kempen, M. J. A., Brilstra, E. H., Dekker, N., van Nieuwenhuizen, O., Augustijn, P. B., Weber, A., Peters, E. D. J., Gunning, W. B., Braun, K. P. J., Brouwer, O. F., Koeleman, B. P. C. & Lindhout, D., 6 May 2006, p. 155-156. 2 p.

  Research output: Contribution to conference › Abstract › Other research output

• Segmental aneuploidies in patients with epilepsy of unknown etiology detected by array-CGH

  Translated title of the contribution: Segmental aneuploidies in patients with epilepsy of unknown etiology detected by array-CGHSwinkels, M. E. M., van Hoek-Terluin, J., ten Berg, K., Beemer, F. A., Brilstra, E. H., Eleveld, M. J., van der Wijst, S. E., Lindhout, D., Hochstenbach, P. F. R., van Nieuwenhuizen, O. & Poot, M., 6 May 2006, p. 104 (P0019).

  Research output: Contribution to conference › Abstract › Other research output
• 2005

  A chromosomal microdeletion and an autosomal recessive disorder: the role of advanced cytogenetic techniques

  Translated title of the contribution: A chromosomal microdeletion and an autosomal recessive disorder: the role of advanced cytogenetic techniquesten Berg, K., Brilstra, E. H., Samren, E. B., Poot, M. & Beemer, F. A., 2005.

  Research output: Contribution to conference › Abstract › Other research output

• Mutation analysis of the SCN1A gene in the Netherlands: first results

  Translated title of the contribution: Mutation analysis of the SCN1A gene in the Netherlands: first resultsBrilstra, E. H., van Kempen, M. J. A., van der Smagt, J. J., van Nieuwenhuizen, O., Braun, K. P. J., Gunning, W. B., Augustijn, PB., Weber, A. M., Brouwer, O. F. & Lindhout, D., 2005, p. 253. 1 p.

  Research output: Contribution to conference › Abstract › Other research output
• 2004

  A chromosomal microdeletion and an autosomal recessive disorder: the role of advance cytogenetic techniques

  Translated title of the contribution: A chromosomal microdeletion and an autosomal recessive disorder: the role of advance cytogenetic techniquesten Berg, K., Brilstra, E. H., Samren, E. B., Poot, M. & Beemer, F. A., 2004.

  Research output: Contribution to conference › Abstract › Other research output