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Global spectrum of USH2A mutation in inherited retinal dystrophies: Prompt message for development of base editing therapy.
- Published in:
- Frontiers in Aging Neuroscience, 2022, v. 14, p. 1, doi. 10.3389/fnagi.2022.948279
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- Publication type:
- Article
Mutation spectrum and genotype‐phenotype correlation of inherited retinal dystrophy in Taiwan.
- Published in:
- Clinical & Experimental Ophthalmology, 2020, v. 48, n. 4, p. 486, doi. 10.1111/ceo.13708
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- Publication type:
- Article
Genetic control of DNA methylation is largely shared across European and East Asian populations.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-47005-0
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- Publication type:
- Article
Functional characterization of CEP250 variant identified in nonsyndromic retinitis pigmentosa.
- Published in:
- Human Mutation, 2019, v. 40, n. 8, p. 1039, doi. 10.1002/humu.23759
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- Publication type:
- Article
Consanguinity-based analysis of exome sequencing yields likely genetic causes in patients with inherited retinal dystrophy.
- Published in:
- 2021
- By:
- Publication type:
- journal article