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- 2022
-
Mark
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy
(
- Contribution to journal › Article
- 2020
-
Mark
Clinical phenotype and course of PDE6A-associated retinitis pigmentosa disease, characterized in preparation for a gene supplementation trial
(
- Contribution to journal › Article
- 2016
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Mark
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.
(
- Contribution to journal › Article
- 2012
-
Mark
Frequency, Genotype, and Clinical Spectrum of Best Vitelliform Macular Dystrophy: Data From a National Center in Denmark
(
- Contribution to journal › Article
- 2011
-
Mark
Fundus Albipunctatus Associated with Compound Heterozygous Mutations in RPE65.
(
- Contribution to journal › Article
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Mark
Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia
(
- Contribution to journal › Article
- 2010
-
Mark
LACK OF AUTOFLUORESCENCE IN FUNDUS ALBIPUNCTATUS ASSOCIATED WITH MUTATIONS IN RDH5.
(
- Contribution to journal › Article
- 2005
-
Mark
Nordic research in ophthalmology.
(
- Contribution to journal › Scientific review