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- 2023
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Mark
Co-occurrence of CLCN2-related leukoencephalopathy and SPG56
(
- Contribution to journal › Article
- 2022
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Mark
Abnormal Appearance of the Area Centralis in Labrador Retrievers With an ABCA4 Loss-of-function Mutation
(
- Contribution to journal › Article
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Mark
Electrophysiological evaluation and 18-month follow-up of two regimens with aflibercept for neovascular age-related macular degeneration
(
- Contribution to journal › Article
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Mark
A novel phenotype associated with the R162W variant in the KCNJ13 gene
(
- 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
(
- 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
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- Contribution to journal › Article
- 2017
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Mark
Ataxia-pancytopenia syndrome with SAMD9L mutations
(
- Contribution to journal › Article
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Mark
An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS
(
- Contribution to journal › Article