1994 …2020

Research output per year

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Research Output

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Review article
2018

Evaluation of the most commonly used (semi-)quantitative parameters of 18F-FDG PET/CT to detect malignant transformation of neurofibromas in neurofibromatosis type 1

Brinkman, M., Jentjens, S., Boone, K., Anten - Dankers, M., Stumpel, C., Nelemans, P. & van Kroonenburgh, M., Nov 2018, In : Nuclear Medicine Communications. 39, 11, p. 961-968 8 p.

Research output: Contribution to journalReview articleAcademicpeer-review

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

Reijnders, M. R. F., Janowski, R., Alvi, M., Self, J. E., van Essen, T. J., Vreeburg, M., Rouhl, R. P. W., Stevens, S. J. C., Stegmann, A. P. A., Schieving, J., Pfundt, R., Dijk, K., Smeets, E., Stumpel, C. T. R. M., Bok, L. A., Cobben, J. M., Engelen, M., Mansour, S., Whiteford, M., Chandler, K. E. & 31 others, Douzgou, S., Cooper, N. S., Tan, E-C., Foo, R., Lai, A. H. M., Rankin, J., Green, A., Lonnqvist, T., Isohanni, P., Williams, S., Ruhoy, I., Carvalho, K. S., Dowling, J. J., Lev, D. L., Sterbova, K., Lassuthova, P., Neupauerova, J., Waugh, J. L., Keros, S., Clayton-Smith, J., Smithson, S. F., Brunner, H. G., van Hoeckel, C., Anderson, M., Clowes, V. E., Siu, V. M., Selber, P., Leventer, R. J., Nellaker, C., Niessing, D. & DDD Study, 1 Feb 2018, In : Journal of Medical Genetics. 55, 2, p. 104-113 10 p.

Research output: Contribution to journalReview articleAcademicpeer-review

Open Access
2017

The 6p25 deletion syndrome: An update on a rare neurocristopathy

de Vos, I. J. H. M., Stegmann, A. P. A., Webers, C. A. B. & Stumpel, C. T. R. M., 2017, In : Ophthalmic Genetics. 38, 2, p. 101-107 7 p.

Research output: Contribution to journalReview articleAcademicpeer-review

Open Access