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Novel GUCA1A Mutations Suggesting Possible Mechanisms of Pathogenesis in Cone, Cone-Rod, and Macular Dystrophy Patients.
- Published in:
- BioMed Research International, 2013, v. 2013, p. 1, doi. 10.1155/2013/517570
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- Article
ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease.
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- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1234032
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- Article
Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 15, p. 8431, doi. 10.3390/ijms23158431
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- Article
Gene Correction Recovers Phagocytosis in Retinal Pigment Epithelium Derived from Retinitis Pigmentosa-Human-Induced Pluripotent Stem Cells.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 4, p. 2092, doi. 10.3390/ijms22042092
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- Article
Genotype–phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials.
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- Acta Ophthalmologica (1755375X), 2021, v. 99, n. 8, p. 922, doi. 10.1111/aos.14795
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- Article
DISTROFIAS HEREDITARIAS DE RETINA EN ESPAÑA: TRES DÉCADAS DE ESTUDIO EPIDEMIOLÓGICO, CLÍNICO Y GENÉTICO.
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- Anales de la Real Academia Nacional de Medicina, 2022, v. 139, n. 3, p. 274, doi. 10.32440/ar.2022.139.03.rev08
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- Article
An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-021-00278-6
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- Article
New Mutations in the RAB28 Gene in 2 Spanish Families With Cone-Rod Dystrophy.
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- JAMA Ophthalmology, 2015, v. 133, n. 2, p. 133, doi. 10.1001/jamaophthalmol.2014.4266
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- Article
Posterior cortical atrophy in clinical practice.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.074568
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- Article
De novo PSEN1 mutation (Pro436Gln) in a very early onset posterior variant of Alzheimer's disease is associated with pyramidal signs.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2021, v. 17, n. 3, p. 1, doi. 10.1002/alz.052804
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- Article