Trijnie Dijkhuizen

Zoekresultaten

• 2009

  A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature

  Hanemaaijer, N., Dijkhuizen, T., Haadsma, M., Boeve, M., Boon, M., Hordijk, R., Kok, K., Sikkema-Raddatz, B. & van Ravenswaaij-Arts, C. M. A., 2009, In: European journal of medical genetics. 52, 2-3, blz. 116-119 4 blz.

  Onderzoeksoutput › peer review

  • POMGNT1 100%
  • Laryngomalacia 100%
  • POMT1 Gene 50%
  • O-mannose 50%
  • Muscle-eye-brain Disease 50%
  7 Citaten (Scopus)

• The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: Report on two patients and review of the literature

  Raas-Rothschild, A., Dijkhuizen, T., Sikkema-Raddatz, B., Werner, M., Dagan, J., Abeliovich, D. & Lerer, I., 2009, In: European journal of medical genetics. 52, 2-3, blz. 140-144 5 blz.

  Onderzoeksoutput › peer review

  • Array Comparative Genomic Hybridization 100%
  • Microdeletion Syndrome 100%
  • Nablus Mask-like Facial Syndrome 100%
  • Chromosome 8 50%
  • Common Deleted Region 20%
  23 Citaten (Scopus)