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Translational Read-Through Drugs (TRIDs) Are Able to Restore Protein Expression and Ciliogenesis in Fibroblasts of Patients with Retinitis Pigmentosa Caused by a Premature Termination Codon in FAM161A.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 7, p. 3541, doi. 10.3390/ijms23073541
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- Article
Enhancer of Zeste Homolog 2 (EZH2) Contributes to Rod Photoreceptor Death Process in Several Forms of Retinal Degeneration and Its Activity Can Serve as a Biomarker for Therapy Efficacy.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 17, p. 9331, doi. 10.3390/ijms22179331
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- Article
CAN VIRUSES BE USED TO MAKE PEOPLE HEALTHY?
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- Frontiers for Young Minds, 2023, p. 1, doi. 10.3389/frym.2023.1021056
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- Article
Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies.
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- Scientific Reports, 2015, p. 13187, doi. 10.1038/srep13187
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- Article
A new mouse model for retinal degeneration due to Fam161a deficiency.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-81414-1
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- Article
Unique combination of clinical features in a large cohort of 100 patients with retinitis pigmentosa caused by FAM161A mutations.
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- Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-72028-0
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- Article
Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF.
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- Human Mutation, 2015, v. 36, n. 9, p. 836, doi. 10.1002/humu.22822
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- Article