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Clinical and preclinical insights into high-dose ambroxol therapy for Gaucher disease type 2 and 3: A comprehensive systematic review
den Hollander, B., le, H. L., Swart, E. L., Bikker, H., Hollak, C. E. M. & Brands, M. M., 1 Sept 2024, In: Molecular Genetics and Metabolism. 143, 1-2, 108556.Research output: Contribution to journal › Article › Academic › peer-review
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Further Delineation of Central Congenital Hypothyroidism due to Variants in TBL1X and IRS4
Lauffer, P., Naafs, J. C., Bikker, H., Garrelfs, M. R., Mooij, C. F., Boelen, A., Zwaveling-Soonawala, N. & van Trotsenburg, A. S. P., 1 Jul 2023, In: Thyroid. 33, 7, p. 880-884 5 p.Research output: Contribution to journal › Article › Academic › peer-review
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Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance
Copier, J. S., Bootsma, M., Ng, C. A., Wilde, A. A. M., Bertels, R. A., Bikker, H., Christiaans, I., van der Crabben, S. N., Hol, J. A., Koopmann, T. T., Knijnenburg, J., Lommerse, A. A. J., van der Smagt, J. J., Bezzina, C. R., Vandenberg, J. I., Verkerk, A. O., Barge-Schaapveld, D. Q. C. M. & Lodder, E. M., 1 Apr 2023, In: Human Molecular Genetics. 32, 7, p. 1072-1082 11 p.Research output: Contribution to journal › Article › Academic › peer-review
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