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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
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Mark
A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing
(
- Contribution to journal › Article
- 2022
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Mark
A novel phenotype associated with the R162W variant in the KCNJ13 gene
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- Contribution to journal › Article
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Mark
A five-year follow-up of ABCA4 carriers showing deterioration of retinal function and increased structural changes
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- Contribution to journal › Article
- 2021
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Mark
Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene
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- Contribution to journal › Article
- 2019
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Mark
Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?
(
- Contribution to journal › Letter
- 2017
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Mark
Ataxia-pancytopenia syndrome with SAMD9L mutations
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- Contribution to journal › Article
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Mark
An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS
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- Contribution to journal › Article
- 2016
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Mark
Characterization of macular structure and function in two swedish families with genetically identified autosomal dominant retinitis pigmentosa
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- 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