Clinical research in families with inherited retinal degeneration
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- 2019
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Mark
A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa
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- Contribution to journal › Article
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Mark
Danon disease presenting with early onset of hypertrophic cardiomyopathy and peripheral pigmentary retinal dystrophy in a female with a de novo novel mosaic mutation in the LAMP2 gene
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- Contribution to journal › Article
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Mark
Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?
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- Contribution to journal › Letter
- 2018
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Mark
Electrophysiology - when nothing is seen
(
- Thesis › Doctoral thesis (compilation)
- 2017
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Mark
The clinical phenotype of CNGA3-related achromatopsia : Pretreatment characterization in preparation of a gene replacement therapy trial
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- Contribution to journal › Article
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Mark
Genotype and Phenotype in an unusual form of Laurence-Moon-Bardet-Biedl syndrome
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- Contribution to journal › Article
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Mark
Reduction of rod and cone function in 6.5-year-old children born extremely preterm
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- Contribution to journal › Article
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Mark
Ataxia-pancytopenia syndrome with SAMD9L mutations
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- Contribution to journal › Article
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Mark
Central retinal vein occlusion in younger Swedish adults : Case reports and review of the literature
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- Contribution to journal › Article
- 2009
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Mark
Rifabutin accumulates in the lens and reduces retinal function in the rabbit eye
(
- Contribution to journal › Article