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Rigshospitalet - a part of Copenhagen University Hospital

Ophthalmic Genetics, 1381-6810

Journal

  1. 2018
  2. Published

    Vitamin A in Stargardt disease-an evidence-based update

    Federspiel, C. A., Bertelsen, M. & Kessel, L., Oct 2018, In : Ophthalmic Genetics. 39, 5, p. 555-559 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. 2017
  4. Published

    Leber hereditary optic neuropathy due to a new ND1 mutation

    Soldath, P., Wegener, M., Sander, B., Rosenberg, T., Duno, M., Wibrand, F. & Vissing, J., 1 Feb 2017, In : Ophthalmic Genetics. 38, 5, p. 480-485 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Published

    Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy

    Liu, Y. P., Bosch, D. G. M., Siemiatkowska, A. M., Rendtorff, N. D., Boonstra, F. N., Möller, C., Tranebjærg, L., Katsanis, N. & Cremers, F. P. M., 2017, In : Ophthalmic Genetics. 38, 2, p. 127-132 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. 2014
  7. Published

    Blue cone monochromatism in a female due to skewed X-inactivation

    Frederiksen, A. L., Duno, M. & Welinder, L. G., 2014, In : Ophthalmic Genetics. 34, 1-2, p. 101-4 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. 2012
  9. Published

    Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy

    Duno, M., Schwartz, M., Larsen, P. L. & Rosenberg, T., 2012, In : Ophthalmic Genetics. 33, 4, p. 225-31 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. 2011
  11. Published

    Morphological and functional changes in multifocal vitelliform retinopathy and biallelic mutations in BEST1

    Wittström, E., Ekvall, S., Schatz, P., Bondeson, M-L., Ponjavic, V. & Andréasson, S., 2011, In : Ophthalmic Genetics. 32, 2, p. 83-96 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. 2010
  13. Published

    Epibulbar lipodermoids, preauricular appendages and polythelia in four generations: a new hereditary syndrome?

    Goldschmidt, E. & Jacobsen, N., 2010, In : Ophthalmic Genetics. 31, 2, p. 81-3 3 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 58418