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- 2023
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Mark
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
(
- Contribution to journal › Article
- 2022
-
Mark
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy
(
- Contribution to journal › Article
- 2019
-
Mark
A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa
(
- Contribution to journal › Article
- 2017
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Mark
Ataxia-pancytopenia syndrome with SAMD9L mutations
(
- Contribution to journal › Article
-
Mark
Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC
(
- Contribution to journal › Article
- 2016
-
Mark
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility
(
- Contribution to journal › Article
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Mark
Characterization of macular structure and function in two swedish families with genetically identified autosomal dominant retinitis pigmentosa
(
- Contribution to journal › Article
- 2011
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Mark
Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia
(
- Contribution to journal › Article
- 2009
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Mark
Mutations in a BTB-Kelch Protein, KLHL7, Cause Autosomal-Dominant Retinitis Pigmentosa
(
- Contribution to journal › Article
- 2006
-
Mark
Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration
(
- Contribution to journal › Article