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PubPharm (183)
1
Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3000 Inherited Retinal Disease Patients from the United Kingdom
enthalten in:
bioRxiv.org
| 2024
von
Woof, W.
|
de Guimarães, T.
|
Al-Khuzaei, S.
| +34
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2
Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3000 Inherited Retinal Disease Patients from the United Kingdom
enthalten in:
medRxiv : the preprint server for health sciences
| 2024
von
Woof, W.
|
de Guimarães, T.
|
Al-Khuzaei, S.
| +34
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3
"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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4
IQCB1 (NPHP5)-retinopathy : Clinical and Genetic Characterization and Natural History
enthalten in:
American journal of ophthalmology
| 2024
von
Sen, S.
|
Fabozzi, L.
|
Fujinami, K.
| +7
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5
Stargardt macular dystrophy and therapeutic approaches
enthalten in:
The British journal of ophthalmology
| 2024
von
Fujinami, K.
|
Waheed, N.
|
Laich, Y.
| +7
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6
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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7
PREVALENCE AND CLINICAL FEATURES OF RADIAL FUNDUS AUTOFLUORESCENCE IN HIGH MYOPIC WOMEN
enthalten in:
Retina (Philadelphia, Pa.)
| 2024
von
Wang, S.
|
Igarashi-Yokoi, T.
|
Mochida, S.
| +2
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8
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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9
RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy : Genetic Characterization, Natural History, and Deep Phenotyping
enthalten in:
American journal of ophthalmology
| 2024
von
Georgiou, M.
|
Fujinami, K.
|
Robson, A.
| +12
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10
Phenotyping and genotyping inherited retinal diseases : Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes
enthalten in:
Progress in retinal and eye research
| 2024
von
Georgiou, M.
|
Robson, A.
|
Fujinami, K.
| +8
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American journal of ophthalmology
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Japanese journal of ophthalmology
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Human genome variation
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Archives of ophthalmology (Chicago, Ill. : 1960)
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Research Support, Non-U.S. Gov't
28
ABCA4 protein, human
28
ATP-Binding Cassette Transporters
27
Case Reports
25
Multicenter Study
19
Eye Proteins
11
RP1L1 protein, human
10
Research Support, N.I.H., Extramural
9
Fundus autofluorescence
9
Optical coherence tomography
9
Review
8
9007-49-2
8
DNA
8
Electroretinogram
8
Macular degeneration
8
Research Support, U.S. Gov't, Non-P.H.S.
7
OCT
7
retina
6
ABCA4
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