Mieke Kerstjens

Zoekresultaten

• 2023

  The role of TBX18 in congenital heart defects in humans not confirmed

  Engwerda, A., Abbott, K. M., Hitzert, M. M., van Ravenswaaij-Arts, C. M. A. & Kerstjens-Frederikse, W. S., feb.-2023, In: European Journal of Human Genetics. 31, blz. 138–141 4 blz.

  Onderzoeksoutput › Academic › peer review

  Open Access

  Bestand
  16 Downloads (Pure)
• 2021

  New insights in phenotype and treatment of lung disease immuno-deficiency and chromosome breakage syndrome (LICS)

  Willemse, B. W. M., van der Crabben, S. N., Kerstjens-Frederikse, W. S., Timens, W., van Montfrans, J. M., Lindemans, C. A., Boelens, J. J., Hennus, M. P. & van Haaften, G., 19-mrt.-2021, In: Orphanet journal of rare diseases. 16, 1, 7 blz., 137.

  Onderzoeksoutput › Academic › peer review

  Open Access

  Bestand
  2 Citaten (Scopus)

  40 Downloads (Pure)
• 1999

  Microdeletion 22q11.2: clinical data and deletion size

  Kerstjens-Frederikse, WS., Kurahashi, H., Driscoll, DA., Budarf, ML., Emanuel, BS., Beatty, B., Scheidl, T., Siegel-Bartelt, J., Henderson, K., Cytrynbaum, C., Nie, G. & Teshima, N. V., sep.-1999, In: JOURNAL OF MEDICAL GENETICS. 36, 9, blz. 721-723 3 blz.

  Onderzoeksoutput › Academic › peer review

  21 Citaten (Scopus)