Research output per year
Research output per year
Network
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
Research output
- 2 Article
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Identification of a Novel CYP11B2 Variant in a Family with Varying Degrees of Aldosterone Synthase Deficiency
Garrelfs, M. R., Rinne, T., Hillebrand, J. J., Lauffer, P., Bijlsma, M. W., Claahsen-van der Grinten, H. L., de Leeuw, N., Finken, M. J. J., Rotteveel, J., Zwaveling-Soonawala, N., Nieuwdorp, M., van Trotsenburg, A. S. P. & Mooij, C. F., 18 Jul 2022, In: JCRPE Journal of Clinical Research in Pediatric Endocrinology.Research output: Contribution to journal › Article › Academic › peer-review
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The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort
Garrelfs, M. R., Takada, S., Kamsteeg, E-J., Pegge, S., Mancini, G., Engelen, M., van de Warrenburg, B., Rennings, A., van Gaalen, J., Peters, I., Weemaes, C., van der Burg, M. & Willemsen, M. A., Dec 2020, In: Pediatric Neurology. 113, p. 26-32 7 p.Research output: Contribution to journal › Article › Academic › peer-review