20102020

Research output per year

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Research Output

  • 35 Article
  • 6 Editorial
  • 5 Comment/Letter to the editor

Improving the diagnostic yield for filaggrin: Concealed mutations in the Dutch population

van Leersum, F. S., Nagtzaam, I. F., van Oosterhoud, C. N., Ghesquiere, S. A. I., Brandts, R. R. H. F. J., Gostynski, A., Steijlen, P. M. & van Geel, M., Jun 2020, In : Journal of Allergy and Clinical Immunology. 145, 6, p. 1704-+ 9 p.

Research output: Contribution to journalComment/Letter to the editorAcademicpeer-review

A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death

Easton, J. A., Albuloushi, A. K., Kamps, M. A. F., Brouns, G. H. M. R., Broers, J. L., Coull, B. J., Oji, V., van Geel, M., van Steensel, M. A. M. & Martin, P. E., Oct 2019, In : Experimental Dermatology. 28, 10, p. 1106-1113 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin

van den Bogaard, E. H. J., van Geel, M., van Vlijmen-Willems, I. M. J. J., Jansen, P. A. M., Peppelman, M., van Erp, P. E. J., Atalay, S., Venselaar, H., Simon, M. E. H., Joosten, M., Schalkwijk, J. & Zeeuwen, P. L. J. M., Jul 2019, In : Genetics in Medicine. 21, 7, p. 1559-1567 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Genetic profiling of basal cell carcinomas detects postzygotic mosaicism in basal cell naevus syndrome

Reinders, M. G. H. C., Cosgun, B., Gijezen, L. M. C., van Oosterhoud, C. N., Kelleners-Smeets, N. W. J., Vermander, E., Vreeburg, M., Steijlen, P. M., Mosterd, K. & van Geel, M., Sep 2019, In : British Journal of Dermatology. 181, 3, p. 587-591 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

Schnitzler's syndrome - a novel hypothesis of a shared pathophysiologic mechanism with Waldenstrom's disease

van Leersum, F. S., Potjewijd, J., van Geel, M., Steijlen, P. M. & Vreeburg, M., 22 Jun 2019, In : Orphanet Journal of Rare Diseases. 14, 4 p., 151.

Research output: Contribution to journalComment/Letter to the editorAcademicpeer-review

Open Access