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PubPharm (322)
1
Functional Vision in Patients With Biallelic USH2A Variants
enthalten in:
American journal of ophthalmology
| 2024
von
Heon, E.
|
Melia, M.
|
Bocchino, L.
| +14
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2
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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3
Scaling up Functional Analyses of the G Protein-Coupled Receptor Rhodopsin
enthalten in:
Journal of molecular evolution
| 2024
von
Scott, B.
|
Chen, S.
|
Van Nynatten, A.
| +5
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4
Scaling up Functional Analyses of the G Protein-Coupled Receptor Rhodopsin
enthalten in:
Journal of molecular evolution
| 2024
von
Scott, B.
|
Chen, S.
|
Van Nynatten, A.
| +5
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5
Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndrome
enthalten in:
Eye (London, England)
| 2023
von
Ballios, B.
|
Mandola, A.
|
Tayyib, A.
| +6
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6
Treatment Strategy With Gene Editing for Late-Onset Retinal Degeneration Caused by a Founder Variant in C1QTNF5
enthalten in:
Investigative ophthalmology & visual science
| 2023
von
Li, R.
|
Roman, A.
|
Sumaroka, A.
| +11
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7
KCNV2-associated retinopathy : genotype-phenotype correlations - KCNV2 study group report 3
enthalten in:
The British journal of ophthalmology
| 2023
von
de Guimaraes, T.
|
Georgiou, M.
|
Robson, A.
| +33
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8
The validation of inherited retinal disease-specific patient-reported outcome measures in adolescent patients
enthalten in:
Ophthalmic genetics
| 2023
von
Selvan, K.
|
Abuzaitoun, R.
|
Abalem, M.
| +10
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9
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction
enthalten in:
HGG advances
| 2023
von
Reurink, J.
|
Weisschuh, N.
|
Garanto, A.
| +47
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10
Shedding light on myopia by studying complete congenital stationary night blindness
enthalten in:
Progress in retinal and eye research
| 2023
von
Zeitz, C.
|
Roger, J.
|
Audo, I.
| +22
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