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Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole‐exome sequencing.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 2251, doi. 10.1002/humu.24492
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- Article
Proliferation Potential of Müller Glia after Retinal Damage Varies between Mouse Strains.
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- PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0094556
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- Article
Compound heterozygous mutations in a mouse model of Leber congenital amaurosis reveal the role of CCT2 in photoreceptor maintenance.
- Published in:
- Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-024-06384-2
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- Article
Novel mutations in malonyl-CoA-acyl carrier protein transacylase provoke autosomal recessive optic neuropathy.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 3, p. 444, doi. 10.1093/hmg/ddz311
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- Article