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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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Comment/Letter to the editor
2018

Loss-of-function zinc finger mutation in the EGLN1 gene associated with erythrocytosis

Sinnema, M., Song, D., Guan, W., Janssen, J. W. H., van Wijk, R., Navalsky, B. E., Peng, K., Donker, A. E., Stegmann, A. P. A. & Lee, F. S., 27 Sep 2018, In : Blood. 132, 13, p. 1455-1458 4 p.

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

2017

Biallelicframeshift mutation in RIN2 in a patient with intellectual disability and cataract, without RIN2 syndrome

van Amen-Hellebrekers, C. J. M., Jansen, S., Stegmann, A. P. A., Stevens, S. J. C., Pfundt, R. & de Vries, B. B. A., Dec 2017, In : American Journal of Medical Genetics Part A. 173, 12, p. 3238-3240 3 p.

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