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/vufind/Search/Results?lookfor=%22Chiang%2C+John+Pei-Wen%22&type=Person&sort=year
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PubPharm (21)
1
Molecular and phenotypic investigation of a New Zealand cohort of childhood-onset retinal dystrophy
enthalten in:
American journal of medical genetics. Part C, Seminars in medical genetics
| 2020
von
Hull, S.
|
Kiray, G.
|
Chiang, J.
| +1
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2
Molecular and phenotypic investigation of a New Zealand cohort of childhood‐onset retinal dystrophy
enthalten in:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
| 2020
von
Hull, S.
|
Kiray, G.
|
Chiang, J.
| +1
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3
Detailed genetic characteristics of an international large cohort of patients with Stargardt disease : ProgStar study report 8
enthalten in:
The British journal of ophthalmology
| 2019
von
Fujinami, K.
|
Strauss, R.
|
Chiang, J.
| +118
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4
Analysis of the ABCA4 c.[2588G>C;5603A>T] Allele in the Australian Population
enthalten in:
Advances in experimental medicine and biology
| 2019
von
Thompson, J.
|
Chiang, J.
|
De Roach, J.
| +5
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5
A founder deletion in the TRPM1 gene associated with congenital stationary night blindness and myopia is highly prevalent in Ashkenazi Jews
enthalten in:
Human genome variation
| 2019
von
Hirsch, Y.
|
Zeevi, D.
|
Lam, B.
| +9
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6
Variants in the ABCA4 gene in a Brazilian population with Stargardt disease
enthalten in:
Molecular vision
| 2018
von
Salles, M.
|
Motta, F.
|
Martin, R.
| +7
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7
Founder Ashkenazi Jewish mutations of large deletion in the inherited retinal dystrophy genes
enthalten in:
Ophthalmic genetics
| 2018
von
Chiang, J.
|
Luo, H.
|
Duan, J.
| +2
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8
Novel Complex ABCA4 Alleles in Brazilian Patients With Stargardt Disease : Genotype-Phenotype Correlation
enthalten in:
Investigative ophthalmology & visual science
| 2017
von
Salles, M.
|
Motta, F.
|
Dias da Silva, E.
| +7
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9
The Effect on Retinal Structure and Function of 15 Specific ABCA4 Mutations : A Detailed Examination of 82 Hemizygous Patients
enthalten in:
Investigative ophthalmology & visual science
| 2016
von
Fakin, A.
|
Robson, A.
|
Chiang, J.
| +5
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10
The current status of molecular diagnosis of inherited retinal dystrophies
enthalten in:
Current opinion in ophthalmology
| 2015
von
Chiang, J.
|
Trzupek, K.
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1
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4
Journal of inherited metabolic disease
2
Clinical biochemistry
2
Current opinion in ophthalmology
2
Investigative ophthalmology & visual science
2
Journal of lipid research
1
Advances in experimental medicine and biology
1
American Journal of Medical Genetics Part C: Se...
1
American journal of medical genetics. Part C, S...
1
Archives of ophthalmology (Chicago, Ill. : 1960)
1
Expert review of molecular diagnostics
1
Human genome variation
1
Molecular vision
1
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1
The British journal of ophthalmology
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Thema
14
Journal Article
6
ABCA4 protein, human
6
ATP-Binding Cassette Transporters
5
Research Support, Non-U.S. Gov't
4
Chenodeoxycholic Acid
4
Cholestanol
3
Cataract
3
Hereditary Spastic Paraplegia
3
Research Support, N.I.H., Extramural
3
Xanthomatosis
2
CYP27A1
2
Homeodomain Proteins
2
Review
2
retina
1
0GEI24LG0J
1
ABCA4
1
ALMS1 protein, human
1
ATP-Binding Cassette Transporters - genetics
1
Australian Inherited Retinal Disease Registry
1
Bile acids
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2020-
19
2010-2019
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