Trijnie Dijkhuizen

Zoekresultaten

• 2023

  Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1

  Breet, H., Vos, Y. J., Dijkhuizen, T., Voorbij-Vierstra, C. L., Bolling, M. C. & van den Akker, P. C., mrt.-2023, In: American Journal of Medical Genetics, Part A. blz. 896-898 3 blz.

  Onderzoeksoutput › Academic › peer review

  Open Access

  Bestand

  • Autosomal Recessive Inheritance 100%
  • Chromosome 1 100%
  • Uniparental Disomy 100%
  • Uncombable Hair Syndrome 100%
  • Autosomal Dominant Inheritance 33%
  86 Downloads (Pure)
• 1999

  Breakpoint mapping by FISH in a Sotos patient with a constitutional translocation t(3;6)

  Kok, K., Mosselaar, A., Faber, H., Dijkhuizen, T., Draaijers, T., Van der Veen, A., Buys, C. & Schrander-Stumpel, C., apr.-1999, In: Journal of Medical Genetics. 36, 4, blz. 346-347 2 blz.

  Onderzoeksoutput › Academic › peer review

  3 Citaten (Scopus)
• 1998

  Distinct features for chromophilic renal cell cancer with Xp11.2 breakpoints

  Dijkhuizen, T., Van Den Berg, E., Storkel, S., Terpe, H., Burger, H. & De Jong, B., 1-jul.-1998, In: Cancer Genetics and Cytogenetics. 104, 1, blz. 74-76 3 blz.

  Onderzoeksoutput › Academic › peer review

  17 Citaten (Scopus)