Department of Genetics

Activities

Activities per year 1999 2007 2009 2010 2011 2012 2013 2014 2015 2024

• 512 Oral presentation
• 280 Participation in conference
• 149 Participation in workshop, seminar, course
• 87 Invited talk
• 78 More
  • 20 Membership of network
  • 14 Consultancy
  • 12 Membership of board
  • 8 Editorial activity
  • 8 Membership of committee
  • 7 Membership of working group
  • 3 Membership of council
  • 3 Types of Public engagement and outreach - Media article or participation
  • 2 Publication peer-review
  • 1 Other

Activities per year

Search results

• Cardiac-urogenital syndrome: a syndromic form of high hyperopia

  HY Kroes (Speaker)

  24 Sept 2024

  Activity: Talk or presentation › Oral presentation › Academic

• Timing of cerebral damage in molybdenum cofactor deficiency: a meta-analysis of case reports

  van Hasselt, P. (Speaker), Ferreira, E. (Speaker), Hofstede, F. (Speaker), Siepel, H. (Speaker), Lichtenbelt, K. (Speaker), Pistorius, L. (Speaker), Wamelink, M. M. C. (Speaker), de Sain-van der Velden, M. (Speaker), Nikkels, P. (Speaker), Lequin, M. (Speaker), de Vries, L. (Speaker) & van der Crabben, S. (Speaker)

  3 Sept 2024 → 6 Sept 2024

  Activity: Talk or presentation › Oral presentation › Academic

  File

• DNA-onderzoek bij Epilepsie: Wat, waarom, hoe?

  Nienke Verbeek (Speaker)

  21 Jun 2019

  Activity: Talk or presentation › Oral presentation › Professional

• Kenmerken en vooruitzichten bij “kleine” epilepsiesyndromen

  Nienke Verbeek (Speaker)

  26 Jan 2019

  Activity: Talk or presentation › Oral presentation › Popular

• Genetische counseling bij familiaire interstitiële longfibrose

  Jasper van der Smagt (Speaker)

  2 Jun 2017

  Activity: Talk or presentation › Oral presentation › Academic

• De praktijk: erfelijkheidsonderzoek bij patiënten met borst- en eierstokkanker

  MGEM Ausems (Speaker)

  15 Nov 2016

  Activity: Talk or presentation › Oral presentation › Academic

• Diagnostic challenges in rare kidney diseases.

  Nine Knoers (Speaker)

  16 Jun 2016

  Activity: Talk or presentation › Oral presentation › Academic

• Genetic testing for rare disorders: practical steps

  Nine Knoers (Speaker)

  22 May 2016

  Activity: Talk or presentation › Oral presentation › Academic

• Intellectual disability and kidney disease

  Nine Knoers (Speaker)

  21 May 2016

  Activity: Talk or presentation › Oral presentation › Academic

• Whole Genome Sequencing: mogelijkheden en uitdagingen.

  Nine Knoers (Speaker)

  14 Apr 2016

  Activity: Talk or presentation › Oral presentation › Academic

• Het zit vast in de genen

  Ploos van Amstel, H. K. (Speaker)

  14 Apr 2016

  Activity: Talk or presentation › Oral presentation › Academic

  File

• What is in the “omes’ in Kouncil?

  Nine Knoers (Speaker)

  23 Mar 2016

  Activity: Talk or presentation › Oral presentation › Academic

• Congenital heart disease at the crossroads of genetics, epigenetics and environment

  Jasper van der Smagt (Speaker)

  21 Mar 2016

  Activity: Talk or presentation › Oral presentation › Academic

• Genetic testing for nephrotic syndrome and Alport syndrome

  Nine Knoers (Speaker)

  4 Feb 2016

  Activity: Talk or presentation › Oral presentation › Academic

• Digitale research

  Eric Hennekam (Speaker)

  4 Dec 2015

  Activity: Talk or presentation › Oral presentation › Academic

• Masterclass digitaal zoeken op internet, in the ‘deep’ web en in archieven

  Eric Hennekam (Speaker)

  10 Nov 2015

  Activity: Talk or presentation › Oral presentation › Academic

• Genetics and rare inherited kidney diseases: back to the future

  Nine Knoers (Speaker)

  18 Oct 2015

  Activity: Talk or presentation › Oral presentation › Academic

• Genome-wide association study of B6 vitamers in CSF and plasma identifies alkaline phosphatase as a key player in human vitamin B6 metabolism

  Monique Albersen (Speaker)

  3 Sept 2015

  Activity: Talk or presentation › Oral presentation › Academic

• Chromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspring

  de Pagter, M. (Speaker)

  8 Jun 2015

  Activity: Talk or presentation › Oral presentation › Academic

• Functionele betekenis van genetische variatie

  Ploos van Amstel, H. K. (Speaker)

  22 Apr 2015

  Activity: Talk or presentation › Oral presentation › Academic

• Chromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspring

  de Pagter, M. (Speaker)

  22 Apr 2015

  Activity: Talk or presentation › Oral presentation › Academic

• Masterclass digitaal zoeken op internet, in the ‘deep’ web en in archieven

  Eric Hennekam (Speaker)

  15 Apr 2015

  Activity: Talk or presentation › Oral presentation › Academic

• Managen van een Academisch Laboratorium

  Ploos van Amstel, H. K. (Speaker)

  18 Mar 2015

  Activity: Talk or presentation › Oral presentation › Academic

• Masterclass digitaal zoeken op internet, in the ‘deep’ web en in archieven

  Eric Hennekam (Speaker)

  4 Mar 2015

  Activity: Talk or presentation › Oral presentation › Academic

• Je genen, je toekomst?

  Nine Knoers (Speaker)

  14 Jan 2015

  Activity: Talk or presentation › Oral presentation › Academic

• Guest Lecturer Internet- en archiefresearch

  Eric Hennekam (Speaker)

  7 Jan 2015 → 9 Jan 2015

  Activity: Talk or presentation › Oral presentation › Academic

• Reverse phenotyping

  Marijn Stokman (Speaker)

  11 Dec 2014

  Activity: Talk or presentation › Oral presentation › Academic

• Methods and technologies for detection of structural genomic changes

  Kloosterman, W. (Speaker)

  2 Dec 2014

  Activity: Talk or presentation › Oral presentation › Academic

• Multilevel effects of non-coding genetic variation on regulatory elements and chromatin organization

  Cuppen, E. (Speaker)

  1 Dec 2014

  Activity: Talk or presentation › Oral presentation › Academic

• Genetica, wat hebben we ook al weer geleerd

  Jasper van der Smagt (Speaker)

  21 Nov 2014

  Activity: Talk or presentation › Oral presentation › Academic

• Vitamin B6 vitamers in body fluids

  Verhoeven-Duif, N. (Speaker)

  21 Nov 2014

  Activity: Talk or presentation › Oral presentation › Academic

• Als kanker in de familie voorkomt

  MGEM Ausems (Speaker)

  20 Nov 2014

  Activity: Talk or presentation › Oral presentation › Academic

• Prenatale en preomplantatie diagnostiek

  Klaske Lichtenbelt (Speaker)

  20 Nov 2014

  Activity: Talk or presentation › Oral presentation › Academic

• Toekomst van genetische diagnostiek

  Cuppen, E. (Speaker)

  20 Nov 2014

  Activity: Talk or presentation › Oral presentation › Academic

• Genetisch onderzoek naar erfelijke hartziekten anno 2014

  Jasper van der Smagt (Speaker)

  8 Nov 2014

  Activity: Talk or presentation › Oral presentation › Academic

• Archiefonderzoek. Zoeken naar bronnen

  Eric Hennekam (Speaker)

  7 Nov 2014

  Activity: Talk or presentation › Oral presentation › Academic

• Als kanker in de familie voorkomt

  MGEM Ausems (Speaker)

  6 Nov 2014

  Activity: Talk or presentation › Oral presentation › Academic

• Personalized cancer treatment

  Cuppen, E. (Speaker)

  5 Nov 2014

  Activity: Talk or presentation › Oral presentation › Academic

• Personalized cancer treatment

  Cuppen, E. (Speaker)

  2 Nov 2014

  Activity: Talk or presentation › Oral presentation › Academic

• Targeting sequencing in PID diagnostic

  Marielle van Gijn (Speaker)

  31 Oct 2014

  Activity: Talk or presentation › Oral presentation › Academic

• Systematic generation and characterisation of zebrafish knockout models

  Cuppen, E. (Speaker)

  30 Oct 2014

  Activity: Talk or presentation › Oral presentation › Academic

• DNA-diagnostiek naar epilepsiesyndromen: wat levert het op?

  Nienke Verbeek (Speaker)

  28 Oct 2014

  Activity: Talk or presentation › Oral presentation › Academic

• Eight amino acid positions in five HLA class I and II genes explain the MHC association to type 1 diabetes risk

  Paul de Bakker (Speaker)

  21 Oct 2014

  Activity: Talk or presentation › Oral presentation › Academic

• A statistical approach to distinguish genetic pleiotropy from clinical heterogeneity: application to autoimmune diseases

  Paul de Bakker (Speaker)

  21 Oct 2014

  Activity: Talk or presentation › Oral presentation › Academic

• Origin, frequency and functional impact of de novo structural changes in the human genome

  Paul de Bakker (Speaker)

  21 Oct 2014

  Activity: Talk or presentation › Oral presentation › Academic

• Population-specific imputations identify a deleterious coding variant in ABCA6 associated with cholesterol levels: The Genome of the Netherlands

  Paul de Bakker (Speaker)

  20 Oct 2014

  Activity: Talk or presentation › Oral presentation › Academic

• En wat als het in de familie zit? Erfelijkheidsonderzoek bij darmkanker en polyposis

  Bernadette van Nesselrooij (Speaker)

  15 Oct 2014

  Activity: Talk or presentation › Oral presentation › Academic

• Psychosociale effecten van genetische sneldiagnostiek bij borstkanker

  MGEM Ausems (Speaker)

  9 Oct 2014

  Activity: Talk or presentation › Oral presentation › Academic

• Paired analyses of diagnostic and relapse samples of MLL rearranged infant acute lymphoblastic leukemia reveals potential therapy-resistant genomic alterations

  A Buijs (Speaker)

  3 Oct 2014

  Activity: Talk or presentation › Oral presentation › Academic

• Myeloid-lineage-restricted NLRP3 mutations

  Marielle van Gijn (Speaker)

  1 Oct 2014

  Activity: Talk or presentation › Oral presentation › Academic