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- 2017
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Mark
The clinical phenotype of CNGA3-related achromatopsia : Pretreatment characterization in preparation of a gene replacement therapy trial
(
- Contribution to journal › Article
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Mark
An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS
(
- 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
Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC
(
- Contribution to journal › Article
- 2016
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Mark
Macular function in preterm children at school age
(
- Contribution to journal › Article
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Mark
A cross-linked hyaluronic acid hydrogel (Healaflow(®)) as a novel vitreous substitute.
2016) In Graefe's Archive for Clinical and Experimental Ophthalmology(
- Contribution to journal › Article
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Mark
Increased Plasma cGMP in a Family With Autosomal Recessive Retinitis Pigmentosa Due to Homozygous Mutations in the PDE6A Gene
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- 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
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Mark
Fixation stability and implication for multifocal electroretinography in patients with neovascular age-related macular degeneration after anti-VEGF treatment
(
- Contribution to journal › Article
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Mark
Most patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency develop pathological or subnormal retinal function
(
- Contribution to journal › Article