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- 2022
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Mark
A five-year follow-up of ABCA4 carriers showing deterioration of retinal function and increased structural changes
(
- Contribution to journal › Article
- 2021
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Mark
Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene
(
- 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
- 2018
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Mark
Full-field ERG as a predictor of the natural course of ABCA4-associated retinal degenerations
(
- Contribution to journal › Article
- 2017
-
Mark
Ataxia-pancytopenia syndrome with SAMD9L mutations
(
- Contribution to journal › Article
-
Mark
An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS
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- Contribution to journal › Article
- 2016
-
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
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Mark
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects
(
- Contribution to journal › Article
- 2015
-
Mark
Reduced macular function in ABCA4 carriers.
(
- Contribution to journal › Article