Found: 13
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Molecular Basis of an Inherited Form of Incomplete Achromatopsia.
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- Journal of Neuroscience, 2004, v. 24, n. 1, p. 138, doi. 10.1523/JNEUROSCI.3883-03.2004
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- Article
Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy.
- Published in:
- Nature Genetics, 2001, v. 28, n. 2, p. 123, doi. 10.1038/88828
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- Article
Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa.
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- Nature Genetics, 2000, v. 26, n. 3, p. 270, doi. 10.1038/81555
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- Article
Electroretinogram and visual field changes in a case of birdshot chorioretinopathy.
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- Documenta Ophthalmologica, 2017, v. 134, n. 2, p. 149, doi. 10.1007/s10633-017-9581-2
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- Article
Juvenile neuronale Zeroidlipofuszinose (Batten-Mayou) Augenärztliche Diagnostik und Befunde ***.
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- Der Ophthalmologe, 1997, v. 94, n. 8, p. 557, doi. 10.1007/s003470050158
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- Article
Manifestations of rod monochromacy.
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- Color Research & Application, 2001, v. 26, n. S1, p. S96, doi. 10.1002/1520-6378(2001)26:1+<::AID-COL22>3.0.CO;2-L
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- Article
OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.
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- Human Molecular Genetics, 2001, v. 10, n. 13, p. 1359, doi. 10.1093/hmg/10.13.1359
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- Article
OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.
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- Human Molecular Genetics, 2001, v. 10, n. 13, doi. 10.1093/hmg/10.13.1359
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- Article
An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.
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- Nature Genetics, 1998, v. 19, n. 3, p. 260, doi. 10.1038/940
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- Article
Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis.
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- Human Mutation, 2001, v. 17, n. 1, p. 34, doi. 10.1002/1098-1004(2001)17:1<34::AID-HUMU4>3.0.CO;2-O
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- Article
Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: Confirmation of genetic heterogeneity.
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- Human Mutation, 1999, v. 13, n. 2, p. 133, doi. 10.1002/(SICI)1098-1004(1999)13:2<133::AID-HUMU5>3.0.CO;2-U
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- Article
Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa.
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- Human Mutation, 1994, v. 3, n. 3, p. 321, doi. 10.1002/humu.1380030326
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- Article
A gene (SRPX) encoding a sushi-repeat-containing protein is deleted in patients with X-linked retinitis pigmentosa.
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- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2339
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- Article