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Dive into the research topics where Hennie Bikker is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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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
Open AccessFile25 Downloads (Pure) -
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
Open AccessFile38 Downloads (Pure) -
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
Open AccessFile36 Downloads (Pure) -
A phenotype-enhanced variant classification framework to decrease the burden of missense variants of uncertain significance in type 1 long QT syndrome
Bains, S., Dotzler, S. M., Krijger, C., Giudicessi, J. R., Ye, D., Bikker, H., Rohatgi, R. K., Tester, D. J., Bos, J. M., Wilde, A. A. M. & Ackerman, M. J., Mar 2022, In: Heart rhythm. 19, 3, p. 435-442 8 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile4 Downloads (Pure) -
Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility (Nature Genetics, (2022), 54, 3, (232-239), 10.1038/s41588-021-01007-6)
KORA-Study Group & Nantes Referral Center for inherited cardiac arrhythmia, 1 May 2022, In: Nature genetics. 54, 5, p. 735 1 p.Research output: Contribution to journal › Comment/Letter to the editor › Academic
Open AccessFile21 Downloads (Pure)