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- 2023
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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
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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
- 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
- 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
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Mark
A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa
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- Contribution to journal › Article
- 2017
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Mark
Genotype and Phenotype in an unusual form of Laurence-Moon-Bardet-Biedl syndrome
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- 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
Reduction of rod and cone function in 6.5-year-old children born extremely preterm
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- 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