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- 2017
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Mark
Reduction of rod and cone function in 6.5-year-old children born extremely preterm
(
- Contribution to journal › Article
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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
Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC
(
- Contribution to journal › Article
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Mark
Genotype and Phenotype in an unusual form of Laurence-Moon-Bardet-Biedl syndrome
(
- 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
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Mark
Aryl Hydrocarbon Receptor-Interacting Protein-Like 1 in Cancer-Associated Retinopathy.
2016) In Ophthalmology(
- 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
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
Increased Plasma cGMP in a Family With Autosomal Recessive Retinitis Pigmentosa Due to Homozygous Mutations in the PDE6A Gene
(
- Contribution to journal › Article
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Mark
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects
(
- Contribution to journal › Article