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PubPharm (185)
1
Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation
enthalten in:
bioRxiv.org
| 2024
von
Currant, H.
|
Fitzgerald, T.
|
Patel, P.
| +4
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2
RP2-Associated X-linked Retinopathy : Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female Carriers
enthalten in:
American journal of ophthalmology
| 2024
von
Georgiou, M.
|
Robson, A.
|
Uwaydat, S.
| +8
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3
Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy : A Meta-Analysis
enthalten in:
JAMA ophthalmology
| 2024
von
Cornelis, S.
|
IntHout, J.
|
Runhart, E.
| +45
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4
Retinal GABAergic Alterations in Adults with Autism Spectrum Disorder
enthalten in:
The Journal of neuroscience : the official journal of the Society for Neuroscience
| 2024
von
Huang, Q.
|
Ellis, C.
|
Leo, S.
| +9
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5
"Congenital Stationary Night Blindness : Structure, Function and Genotype - Phenotype Correlations in a cohort of 122 patients."
enthalten in:
Ophthalmology. Retina
| 2024
von
Katta, M.
|
de Guimaraes, T.
|
Fujinami-Yokokawa, Y.
| +5
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6
Unusual OCT findings in a patient with CABP4-associated cone-rod synaptic disorder
enthalten in:
Documenta ophthalmologica. Advances in ophthalmology
| 2024
von
Tan, J.
|
Arno, G.
|
Josifova, D.
| +2
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7
Genetic analysis of ocular tumour-associated genes using large genomic datasets : insights into selection constraints and variant representation in the population
enthalten in:
BMJ open ophthalmology
| 2024
von
Tanner, A.
|
Sagoo, M.
|
Mahroo, O.
| +1
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8
Visual Acuity by Decade in 139 Males with RPGR-Associated Retinitis Pigmentosa
enthalten in:
Ophthalmology science
| 2024
von
De Silva, S.
|
Chan, H.
|
Agarwal, A.
| +3
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9
Cone-driven strong flash electroretinograms in healthy adults : Prevalence of negative waveforms
enthalten in:
Documenta ophthalmologica. Advances in ophthalmology
| 2024
von
Jiang, X.
|
Bhatti, T.
|
Tariq, A.
| +6
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10
Genetics, Clinical Characteristics, and Natural History of PDE6B-Associated Retinal Dystrophy
enthalten in:
American journal of ophthalmology
| 2024
von
Hashem, S.
|
Georgiou, M.
|
Fujinami-Yokokawa, Y.
| +8
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Ophthalmology
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Documenta ophthalmologica
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American journal of ophthalmology
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Eye (London, England)
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Documenta ophthalmologica. Advances in ophthalm...
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JAMA ophthalmology
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Canadian journal of ophthalmology. Journal cana...
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Ophthalmology. Retina
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Progress in retinal and eye research
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The New England journal of medicine
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11
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11
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10
Twin Study
9
Multicenter Study
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Electroretinography
7
Electroretinogram (ERG)
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retina
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ABCA4 protein, human
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ATP-Binding Cassette Transporters
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Electroretinogram
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