A new PDE6A missense variant p.Arg544Gln in rod–cone dystrophy.
- Published in:
- Documenta Ophthalmologica, 2021, v. 143, n. 1, p. 107, doi. 10.1007/s10633-021-09826-y
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- Publication type:
- Article
Works matching IS 00124486 AND DT 2021 AND VI 143 AND IP 1
Results: 11
1
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A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A > G in retinoid isomerohydrolase (RPE65) and c.37C > T in bestrophin 1 (BEST1).
- Published in:
- Documenta Ophthalmologica, 2021, v. 143, n. 1, p. 61, doi. 10.1007/s10633-021-09819-x
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- Publication type:
- Article
3
Child with a mild phenotype of Incontinentia Pigmenti and inner retinal dysfunction.
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- Documenta Ophthalmologica, 2021, v. 143, n. 1, p. 93, doi. 10.1007/s10633-021-09824-0
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- Article
4
Vitamin A deficiency after prolonged intake of an unbalanced diet in a Japanese hemodialysis patient.
- Published in:
- Documenta Ophthalmologica, 2021, v. 143, n. 1, p. 85, doi. 10.1007/s10633-021-09823-1
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- Publication type:
- Article
5
Pseudorandom full-field electroretinograms reflect different light adaptation mechanisms.
- Published in:
- Documenta Ophthalmologica, 2021, v. 143, n. 1, p. 53, doi. 10.1007/s10633-021-09822-2
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- Publication type:
- Article
6
A patient diagnosed with Galloway–Mowat syndrome presenting with a rod-cone functional anomaly with electronegative dark-adapted ERGs.
- Published in:
- Documenta Ophthalmologica, 2021, v. 143, n. 1, p. 75, doi. 10.1007/s10633-021-09820-4
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- Publication type:
- Article
7
Evolution of the retinal function by flash-ERG in one child suffering from neuronal ceroid lipofuscinosis CLN2 treated with cerliponase alpha: case report.
- Published in:
- Documenta Ophthalmologica, 2021, v. 143, n. 1, p. 99, doi. 10.1007/s10633-021-09825-z
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- Publication type:
- Article
8
Dark-adapted threshold and electroretinogram for diagnosis of Usher syndrome.
- Published in:
- Documenta Ophthalmologica, 2021, v. 143, n. 1, p. 39, doi. 10.1007/s10633-021-09818-y
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- Publication type:
- Article
9
Retinal function after intravitreal injection of autologous bone marrow-derived mesenchymal stromal cells in advanced glaucoma.
- Published in:
- Documenta Ophthalmologica, 2021, v. 143, n. 1, p. 33, doi. 10.1007/s10633-021-09817-z
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- Publication type:
- Article
10
Vision before and after scharioth macular lens implantation in patients with AMD: an electrophysiological study.
- Published in:
- Documenta Ophthalmologica, 2021, v. 143, n. 1, p. 17, doi. 10.1007/s10633-020-09814-8
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- Publication type:
- Article
11
Organic visual loss measured by kinetic perimetry and retinal electrophysiology in children with functional amblyopia.
- Published in:
- Documenta Ophthalmologica, 2021, v. 143, n. 1, p. 1, doi. 10.1007/s10633-020-09811-x
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- Publication type:
- Article