Found: 11
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Hypotrichosis and juvenile macular dystrophy caused by CDH3 mutation: A candidate disease for retinal gene therapy.
- Published in:
- Scientific Reports, 2016, p. 23674, doi. 10.1038/srep23674
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- Publication type:
- Article
Intraretinal Microvascular Abnormalities and Venous Beading Have Different Genetic Profiles in Caucasian Patients with Non-Proliferative Diabetic Retinopathy.
- Published in:
- Vision (2411-5150), 2023, v. 7, n. 1, p. 18, doi. 10.3390/vision7010018
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- Publication type:
- Article
The role of multimodal imaging and vision function testing in ABCA4 -related retinopathies and their relevance to future therapeutic interventions.
- Published in:
- Therapeutic Advances in Ophthalmology, 2021, p. 1, doi. 10.1177/25158414211056384
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- Publication type:
- Article
Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Diabetic macular oedema: under-represented in the genetic analysis of diabetic retinopathy.
- Published in:
- Acta Ophthalmologica (1755375X), 2018, v. 96, p. 1, doi. 10.1111/aos.13678
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- Publication type:
- Article
Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes.
- Published in:
- Genes, 2022, v. 13, n. 8, p. 1423, doi. 10.3390/genes13081423
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- Publication type:
- Article
An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story.
- Published in:
- Genes, 2021, v. 12, n. 8, p. 1241, doi. 10.3390/genes12081241
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- Publication type:
- Article
Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL.
- Published in:
- Genes, 2020, v. 11, n. 12, p. 1497, doi. 10.3390/genes11121497
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- Publication type:
- Article
Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients.
- Published in:
- Genes, 2020, v. 11, n. 11, p. 1288, doi. 10.3390/genes11111288
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- Publication type:
- Article
Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report.
- Published in:
- 2021
- By:
- Publication type:
- journal article