Annelot van Esbroeck

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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, Gillentine, M. A., Goodloe, D. H., Haack, T. B., Jain, M., Krantz, I., Luu, S. M., McPheron, M., Muss, C. L., Raible, S. E., Robin, N. H., Spiller, M., Starling, S., Sweetser, D. A., Thiffault, I., Vetrini, F., Witt, D., Woods, E., Zhou, D., Elgersma, Y. & van Esbroeck, A. C. M., 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 Access
9 Citations (Scopus)

dr. Annelot van Esbroeck

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Collaborations and top research areas from the last five years

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HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

dr. Annelot van Esbroeck

Fingerprint

Collaborations and top research areas from the last five years

Research output

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder