Research output

Research output per year 1995 2001 2014 2015 2024

• 115 Article
• 16 Meeting Abstract
• 9 Chapter
• 8 Review article
• 24 More
  • 7 Poster
  • 6 Comment/Letter to the editor
  • 4 Letter
  • 3 Abstract
  • 3 Paper
  • 1 Doctoral thesis 1 (Research UU / Graduation UU)

Research output per year

Research output per year

Search results

• 2015

  Diagnostic value of urinary mevalonic acid excretion in patietns with a clinical suspicion of mevalonate kinase deficiency (MKD)

  Jeyaratnam, J., ter Haar, N., de Sain-van der Velden, M., Waterham, H., van Gijn, M. & Frenkel, J., 28 Sept 2015, p. O57.

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

  Open Access

  File
• 2014

  Implementation of targeted NGS based pid screening for routine diagnostic use

  van Montfrans, J. M., van de Corput, L., van Zon, P. H. A., Elferink, M. G., Frenkel, J., Leavis, H., Ellerbroek, P. M., van Royen-Kerkhof, A., Janssen, W., Boes, M., Ploos van Amstel, H. K. & van Gijn, M. E., 29 Oct 2014.

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

  Multiplex ligation-dependent probe amplification, not a valuable adjunct in FMF diagnostics

  Translated title of the contribution: Multiplex ligation-dependent probe amplification, not a valuable adjunct in FMF diagnosticsvan Gijn, M. E., Mulder, M., Frenkel, J. & et al., X., 2008, p. 202. 1 p.

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