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topic_facet:"ATP-Binding Cassette Transporters"
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/vufind/Search/Results?lookfor=%22Chen%2C+Fred+K%22&type=Person&filter%5B%5D=topic_facet%3A%22ATP-Binding+Cassette+Transporters%22
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PubPharm (15)
1
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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2
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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3
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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4
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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5
Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases
enthalten in:
Investigative ophthalmology & visual science
| 2022
von
Williams, K.
|
Georgiou, M.
|
Kalitzeos, A.
| +12
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6
Stargardt disease and progress in therapeutic strategies
enthalten in:
Ophthalmic genetics
| 2022
von
Huang, D.
|
Heath Jeffery, R.
|
Aung-Htut, M.
| +4
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7
Genotype-Specific Lesion Growth Rates in Stargardt Disease
enthalten in:
Genes
| 2021
von
Heath Jeffery, R.
|
Thompson, J.
|
Lo, J.
| +6
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8
CLASSIFYING ABCA4 MUTATION SEVERITY USING AGE-DEPENDENT ULTRA-WIDEFIELD FUNDUS AUTOFLUORESCENCE-DERIVED TOTAL LESION SIZE
enthalten in:
Retina (Philadelphia, Pa.)
| 2021
von
Heath Jeffery, R.
|
Thompson, J.
|
Lamey, T.
| +6
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9
Generation of two induced pluripotent stem cell lines from a patient with Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene
enthalten in:
Stem cell research
| 2021
von
Huang, D.
|
Zhang, D.
|
Chen, S.
| +9
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10
Generation of an induced pluripotent stem cell line from a patient with Stargardt disease caused by biallelic c.[5461-10T>C;5603A>T];[6077T>C] mutations in the ABCA4 gene
enthalten in:
Stem cell research
| 2021
von
Huang, D.
|
Zhang, D.
|
Chen, S.
| +9
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Thema: ATP-Binding Cassette Transporters
Medienart
15
Aufsätze
15
E-Artikel
15
E-Ressourcen
Zeitschriftentitel
4
Stem cell research
2
Investigative ophthalmology & visual science
2
Retina (Philadelphia, Pa.)
1
Advances in experimental medicine and biology
1
Biomolecules
1
Experimental eye research
1
Genes
1
Molecular genetics & genomic medicine
1
Ophthalmic genetics
1
Ophthalmology. Retina
Alle anzeigen ...
weniger ...
Thema
15
ABCA4 protein, human
ATP-Binding Cassette Transporters
15
Journal Article
10
Research Support, Non-U.S. Gov't
4
KLF4 protein, human
4
Kruppel-Like Factor 4
3
ABCA4
3
Stargardt disease
2
Case Reports
2
Eye Proteins
2
Nerve Tissue Proteins
2
fundus autofluorescence
1
ABCA4 splice variants
1
ATP-binding cassette subfamily A member 4 (ABCA4)
1
Australian Inherited Retinal Disease Registry
1
CDHR1 protein, human
1
Cadherin Related Proteins
1
Ellipsoid zone
1
Hypomorphic
1
Imaging biomarkers
Alle anzeigen ...
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Erscheinungszeitraum
12
2020-
2
2010-2019
1
2000-2009
Erscheinungsjahr(e)
Von:
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Sprache
15
Englisch
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