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PubPharm (104)
1
Datasets-Based IMPDH1 Revisited : Heterozygous Missense Variants for Dominant Retinitis Pigmentosa While Truncation Variants Are Likely Non-Pathogenic
enthalten in:
Current eye research
| 2024
von
Wang, J.
|
Wang, Y.
|
Jiang, Y.
| +6
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2
Influence of Dyadic Coping Model on Anxiety and Depression Level and Treatment Compliance in Glaucoma Patients
enthalten in:
Alternative therapies in health and medicine
| 2024
von
Cheng, J.
|
Sun, W.
|
Yu, C.
| +2
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3
Variant and clinical landscape of Leber hereditary optic neuropathy based on 1516 families with mtDNA variants in a tertiary centre
enthalten in:
The British journal of ophthalmology
| 2024
von
Zheng, Y.
|
Wang, Y.
|
Jiang, Y.
| +7
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4
Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia
enthalten in:
Journal of translational medicine
| 2024
von
Jiang, Y.
|
Xiao, X.
|
Sun, W.
| +6
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5
Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia
enthalten in:
Journal of translational medicine
| 2024
von
Jiang, Y.
|
Xiao, X.
|
Sun, W.
| +6
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6
Clinical and Genetic Landscape of Ectopia Lentis Based on a Cohort of Patients From 156 Families
enthalten in:
Investigative ophthalmology & visual science
| 2024
von
Guo, D.
|
Li, S.
|
Xiao, X.
| +10
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7
Genetic and clinical landscape of ARR3-associated MYP26 : the most common cause of Mendelian early-onset high myopia with a unique inheritance
enthalten in:
The British journal of ophthalmology
| 2023
von
Wang, Y.
|
Xiao, X.
|
Li, X.
| +9
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8
Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4
enthalten in:
American journal of ophthalmology
| 2023
von
Wang, J.
|
Li, S.
|
Jiang, Y.
| +8
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9
Generation of an induced pluripotent stem cell line (ZSZOCi001-A) from a patient with Knobloch syndrome caused by biallelic mutations in the gene COL18A1
enthalten in:
Stem cell research
| 2023
von
Jiang, Z.
|
Sun, W.
|
Zhang, Q.
| +1
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10
Clinical and Genetic Features of NR2E3-Associated Retinopathy : A Report of Eight Families with a Longitudinal Study and Literature Review
enthalten in:
Genes
| 2023
von
Xiao, S.
|
Yi, Z.
|
Xiao, X.
| +7
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Investigative ophthalmology & visual science
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Thema
73
Journal Article
52
Research Support, Non-U.S. Gov't
18
Eye Proteins
8
9007-49-2
8
DNA
8
retinitis pigmentosa
7
Membrane Proteins
6
Pathogenicity
6
Variant
5
Transcription Factors
4
55957-26-1
4
Autosomal dominant optic atrophy
4
Cytoskeletal Proteins
4
Familial exudative vitreoretinopathy
4
Leber congenital amaurosis
4
Letter
4
Phenotypes
4
Variants
4
ethanoxyhexamercarbide
3
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Erscheinungszeitraum
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2020-
37
2010-2019
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1
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