Found: 8
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A novel frameshift variant in the TSPAN12 gene causes autosomal dominant FEVR.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 6, p. 1, doi. 10.1002/mgg3.1949
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- Article
Characterization of a novel heterozygous frameshift variant in NDP gene that causes familial exudative vitreoretinopathy in female patients.
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- Molecular Genetics & Genomics, 2024, v. 299, n. 1, p. 1, doi. 10.1007/s00438-024-02128-3
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- Article
Deciphering a crucial dimeric interface governing Norrin dimerization and the pathogenesis of familial exudative vitreoretinopathy.
- Published in:
- FASEB Journal, 2024, v. 38, n. 4, p. 1, doi. 10.1096/fj.202302387R
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- Article
A comprehensive functional analysis on the pathogenesis of novel TSPAN12 and NDP variants in familial exudative vitreoretinopathy.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 3, p. 320, doi. 10.1111/cge.14273
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- Article
Heterozygote loss‐of‐function variants in the LRP5 gene cause familial exudative vitreoretinopathy.
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- Clinical & Experimental Ophthalmology, 2022, v. 50, n. 4, p. 441, doi. 10.1111/ceo.14037
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- Article
Whole-Exome Sequencing Reveals Novel NDP Variants in X-Linked Familial Exudative Vitreoretinopathy.
- Published in:
- European Journal of Ophthalmology, 2022, v. 32, n. 6, p. 3220, doi. 10.1177/11206721221074209
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- Article
Erratum to: CD146 as a promising therapeutic target for retinal and choroidal neovascularization diseases.
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- 2024
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- Correction Notice
CD146 as a promising therapeutic target for retinal and choroidal neovascularization diseases.
- Published in:
- SCIENCE CHINA Life Sciences, 2022, v. 65, n. 6, p. 1157, doi. 10.1007/s11427-021-2020-0
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- Article