Research output per year
Research output per year
Research output
- 3 Journal article
Search results
-
2019
A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family
Eiberg, H., Mikkelsen, A. F., Bak, M., Tommerup, N., Lund, A. M., Wenzel, A., Sabarinathan, R., Gorodkin, J., Bang-Berthelsen, C. H. & Hansen, L., 2019, In: Molecular Vision. 25, p. 1-11 11 p.Research output: Contribution to journal › Journal article › Research › peer-review
2 Downloads (Pure) -
2009
Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract
Hansen, L., Mikkelsen, A., Nürnberg, P., Nürnberg, G., Anjum, I., Eiberg, H. & Rosenberg, T., 2009, In: Investigative Ophthalmology & Visual Science. 50, 7, p. 3291-303 12 p.Research output: Contribution to journal › Journal article › Research › peer-review
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2008
Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression.
Eiberg, H., Troelsen, J., Boyd, M., Mikkelsen, A. F., Mengel-From, J., Kjaer, K. W. & Hansen, L., 2008, In: Human Genetics. 123, 2, p. 177-87 10 p.Research output: Contribution to journal › Journal article › Research › peer-review