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Dive into the research topics where Eva Niggl is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Research output
- 5 Article
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Standardizing designed and emergent quantitative features in microphysiological systems
Nahon, D. M., Moerkens, R., Aydogmus, H., Lendemeijer, B., Martínez-Silgado, A., Stein, J. M., Dostanić, M., Frimat, J. P., Gontan, C., de Graaf, M. N. S., Hu, M., Kasi, D. G., Koch, L. S., Le, K. T. T., Lim, S., Middelkamp, H. H. T., Mooiweer, J., Motreuil-Ragot, P., Niggl, E. & Pleguezuelos-Manzano, C. & 13 others, , Aug 2024, In: Nature Biomedical Engineering. 8, 8, p. 941-962 22 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile30 Citations (Scopus)16 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) -
Identifying the temporal electrophysiological and molecular changes that contribute to TSC-associated epileptogenesis
Koene, L. M. C., Niggl, E., Wallaard, I., Proietti-Onori, M., Rotaru, D. C. & Elgersma, Y., 8 Dec 2021, In: JCI insight. 6, 23, e150120.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile15 Citations (Scopus)54 Downloads (Pure) -
Conserved UBE3A subcellular distribution between human and mice is facilitated by non-homologous isoforms
Zampeta, I., Sonzogni, M., Niggl, E., Lendemeijer, B., Smeenk, H., de Vrij, F., Kushner, S., Distel, B. & Elgersma, Y., 2020, In: Human Molecular Genetics. 29, 18, p. 3032-3043 12 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile22 Citations (Scopus)39 Downloads (Pure) -
Beyond the Exome: The Non-coding Genome and Enhancers in Neurodevelopmental Disorders and Malformations of Cortical Development
Perenthaler, E., Yousefi, S., Niggl, E. & Barakat, S., 2019, In: Frontiers in Cellular Neuroscience. 13, 352.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile55 Citations (Scopus)46 Downloads (Pure)