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PubPharm (49)
1
Rapid Variant Pathogenicity Analysis by CRISPR Activation of CRB1 Gene Expression in Patient-Derived Fibroblasts
enthalten in:
The CRISPR journal
| 2024
von
Moon, S.
|
Zhang, D.
|
Chen, S.
| +5
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2
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes
enthalten in:
Biomolecules
| 2024
von
Hitti-Malin, R.
|
Panneman, D.
|
Corradi, Z.
| +57
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3
Analysis of the Outer Retinal Bands in ABCA4 and PRPH2-Associated Retinopathy using OCT
enthalten in:
Ophthalmology. Retina
| 2024
von
Heath Jeffery, R.
|
Lo, J.
|
Thompson, J.
| +7
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4
Reply
enthalten in:
Ophthalmology. Retina
| 2023
von
Heath Jeffery, R.
|
Lo, J.
|
Thompson, J.
| +7
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5
Elevated Plasma Complement Factors in
CRB1
-associated Inherited Retinal Dystrophies
enthalten in:
bioRxiv.org
| 2023
von
Moekotte, L.
|
de Boer, J.
|
Hiddingh, S.
| +31
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6
Driving with retinitis pigmentosa
enthalten in:
Ophthalmic genetics
| 2023
von
Heath Jeffery, R.
|
Lo, J.
|
Thompson, J.
| +5
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7
Longitudinal Analysis of Functional and Structural Outcome Measures in PRPH2-Associated Retinal Dystrophy
enthalten in:
Ophthalmology. Retina
| 2023
von
Heath Jeffery, R.
|
Thompson, J.
|
Lamey, T.
| +5
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8
Microperimetry and Adaptive Optics Imaging Reveal Localized Functional and Structural Changes in Asymptomatic RPGR Mutation Carriers
enthalten in:
Investigative ophthalmology & visual science
| 2023
von
Roshandel, D.
|
Lamey, T.
|
Charng, J.
| +7
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9
Characterising splicing defects of ABCA4 variants within exons 13-50 in patient-derived fibroblasts
enthalten in:
Experimental eye research
| 2022
von
Huang, D.
|
Thompson, J.
|
Chen, S.
| +14
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10
SIBLING CONCORDANCE IN SYMPTOM ONSET AND ATROPHY GROWTH RATES IN STARGARDT DISEASE USING ULTRA-WIDEFIELD FUNDUS AUTOFLUORESCENCE
enthalten in:
Retina (Philadelphia, Pa.)
| 2022
von
Heath Jeffery, R.
|
Thompson, J.
|
Lo, J.
| +7
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Documenta ophthalmologica
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Ophthalmology. Retina
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Documenta ophthalmologica. Advances in ophthalm...
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Human genome variation
1
JAMA ophthalmology
1
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Thema
38
Journal Article
28
Research Support, Non-U.S. Gov't
15
Eye Proteins
12
ABCA4 protein, human
12
ATP-Binding Cassette Transporters
8
Inherited retinal disease
6
Nerve Tissue Proteins
5
CRB1 protein, human
5
Membrane Proteins
5
Retinitis pigmentosa
4
Best disease
4
Case Reports
4
Choroidal neovascularisation
4
KLF4 protein, human
4
Kruppel-Like Factor 4
4
Microperimetry
4
Natural history study
4
Quantitative fundus autofluorescence
4
Stargardt disease
4
Vitelliform macular dystrophy
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Erscheinungszeitraum
37
2020-
12
2010-2019
Erscheinungsjahr(e)
Von:
Bis:
Sprache
45
Englisch
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