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Alexander Stegmann

20102020

Research output per year

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Research Output

  • 38 Article
  • 3 Erratum / corrigendum
  • 3 Review article
  • 2 Comment/Letter to the editor
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Review article
2018

De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review

van den Akker, W. M. R., Brummelman, I., Martis, L. M., Timmermans, R. N., Pfundt, R., Kleefstra, T., Willemsen, M. H., Gerkes, E. H., Herkert, J. C., van Essen, A. J., Rump, P., Vansenne, F., Terhal, P. A., van Haelst, M. M., Cristian, I., Turner, C. E., Cho, M. T., Begtrup, A., Willaert, R., Fassi, E. & 4 others, van Gassen, K. L. I., Stegmann, A. P. A., de Vries, B. B. A. & Schuurs-Hoeijmakers, J. H. M., 1 May 2018, In : Clinical Genetics. 93, 5, p. 1000-1007 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