-
Leber's hereditary optic neuropathy like disease in MT-ATP6 variant m.8969G>A
de Muijnck, C., van Schooneveld, M. J., Plomp, A. S., Rodenburg, R. J., van Genderen, M. M. & Boon, C. J. F., 1 Jun 2024, In: American Journal of Ophthalmology Case Reports. 34, 102070.Research output: Contribution to journal › Article › Academic › peer-review
-
Efficacy of Carbonic Anhydrase Inhibitors on Cystoid Fluid Collections and Visual Acuity in Patients with X-Linked Retinoschisis
Hensman, J., Hahn, L. C., van Schooneveld, M. J., Diederen, R. M. H., ten Brink, J. B., Florijn, R. J., Bergen, A. A., Strubbe, I., Heutinck, P., van Genderen, M. M., van den Born, L. I., Thiadens, A. A., de Zaeytijd, J., Leroy, B. P., Hoyng, C. B. & Boon, C. J. F., Jun 2024, In: Ophthalmology Retina. 8, 6, p. 600-606 7 p.Research output: Contribution to journal › Article › Academic › peer-review
-
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
- All publications