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Dive into the research topics where Annelot van Esbroeck is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Research output
- 2 Article
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Localization of human UBE3A isoform 3 is highly sensitive to amino acid substitutions at p.Met21 position
van Esbroeck, A. C. M., Verhagen, R. F. M., Biagioni, M., Fossati, M., Distel, B. & Elgersma, Y., 11 Apr 2025, In: Human Molecular Genetics. 34, 12, p. 1009-1016 8 p., ddaf044.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)10 Downloads (Pure) -
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder
Niggl, E., Bouman, A., Genomics England Research Consortium, Undiagnosed Diseases Network, Briere, L. C., Hoogenboezem, R. M., Wallaard, I., Park, J., Admard, J., Wilke, M., Harris-Mostert, E. D. R. O., Elgersma, M., Bain, J., Balasubramanian, M., Banka, S., Benke, P. J., Bertrand, M., Blesson, A. E., Clayton-Smith, J. & Ellingford, J. M. & 20 others, , 3 Aug 2023, In: American Journal of Human Genetics. 110, 8, p. 1414-1435 22 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access16 Citations (Scopus)