Found: 12
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Germline variants in the MBD4 gene are rare in patients with uveal melanoma.
- Published in:
- Acta Ophthalmologica (1755375X), 2019, v. 97, p. N.PAG, doi. 10.1111/j.1755-3768.2019.5458
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- Publication type:
- Article
Candidate gene analysis of germline variants in Finnish patients with juvenile open‐angle glaucoma.
- Published in:
- Acta Ophthalmologica (1755375X), 2019, v. 97, p. N.PAG, doi. 10.1111/j.1755-3768.2019.5457
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- Publication type:
- Article
In Vivo corneal confocal microscopy study of keratoendotheliitis fugax hereditaria caused by a pathogenic variant in the NLRP3 gene.
- Published in:
- Acta Ophthalmologica (1755375X), 2019, v. 97, p. N.PAG, doi. 10.1111/j.1755-3768.2019.5341
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- Publication type:
- Article
Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide.
- Published in:
- 2018
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- Publication type:
- journal article
Identifying haplotypes in recessive inherited retinal dystrophies using whole‐genome linked‐read sequencing.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 1, p. 193, doi. 10.1111/cge.13847
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- Publication type:
- Article
Germline loss‐of‐function variants in MBD4 are rare in Finnish patients with uveal melanoma.
- Published in:
- Pigment Cell & Melanoma Research, 2020, v. 33, n. 5, p. 756, doi. 10.1111/pcmr.12892
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- Publication type:
- Article
A novel missense TGFBI variant p.(Ser591Phe) in a Finnish family with variant lattice corneal dystrophy.
- Published in:
- European Journal of Ophthalmology, 2022, v. 32, n. 4, p. NP61, doi. 10.1177/1120672121997305
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- Publication type:
- Article
Epithelial recurrent erosion dystrophy (ERED) from the splice site altering COL17A1 variant c.3156C>T in families of Finnish‐Swedish ancestry.
- Published in:
- Acta Ophthalmologica (1755375X), 2024, v. 102, n. 3, p. 296, doi. 10.1111/aos.15716
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- Publication type:
- Article
Analysis of glaucoma genes in Finnish patients with juvenile open‐angle glaucoma.
- Published in:
- Acta Ophthalmologica (1755375X), 2023, v. 101, n. 7, p. 797, doi. 10.1111/aos.15670
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- Publication type:
- Article
Germline variants in cancer predisposition genes in patients with uveal melanoma.
- Published in:
- Acta Ophthalmologica (1755375X), 2022, v. 100, p. N.PAG, doi. 10.1111/j.1755-3768.2022.0324
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- Publication type:
- Article
Analysis of glaucoma genes in Finnish patients with juvenile open‐angle glaucoma.
- Published in:
- 2022
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- Publication type:
- Abstract
Population-based analysis of BAP1 germline variations in patients with uveal melanoma.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 14, p. 2415, doi. 10.1093/hmg/ddz076
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- Publication type:
- Article