Amsterdam Neuroscience
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Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction
Reurink, J., Weisschuh, N., Garanto, A., Dockery, A., van den Born, L. I., Fajardy, I., Haer-Wigman, L., Kohl, S., Wissinger, B., Farrar, G. J., Ben-Yosef, T., Pfiffner, F. K., Berger, W., Weener, M. E., Dudakova, L., Liskova, P., Sharon, D., Salameh, M., Offenheim, A., Heon, E., & 30 others , 13 Apr 2023, In: Human Genetics and Genomics Advances. 4, 2, 100181.Research output: Contribution to journal › Article › Academic › peer-review
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The Natural History of Leber Congenital Amaurosis and Cone–Rod Dystrophy Associated with Variants in the GUCY2D Gene
Hahn, L. C., Georgiou, M., Almushattat, H., van Schooneveld, M. J., de Carvalho, E. R., Wesseling, N. L., ten Brink, J. B., Florijn, R. J., Lissenberg-Witte, B. I., Strubbe, I., van Cauwenbergh, C., de Zaeytijd, J., Walraedt, S., de Baere, E., Mukherjee, R., McKibbin, M., Meester-Smoor, M. A., Thiadens, A. A. H. J., Al-Khuzaei, S., Akyol, E., & 11 others , Aug 2022, In: Ophthalmology Retina. 6, 8, p. 711-722 12 p.Research output: Contribution to journal › Article › Academic › peer-review
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Sodium-Iodate Injection Can Replicate Retinal Degenerative Disease Stages in Pigmented Mice and Rats: Non-Invasive Follow-Up Using OCT and ERG
Koster, C. L., van den Hurk, K. T., ten Brink, J. B., Lewallen, C. F., Stanzel, B. V., Bharti, K. & Bergen, A. A., 1 Mar 2022, In: International journal of molecular sciences. 23, 6, 2918.Research output: Contribution to journal › Article › Academic › peer-review
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