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Investigative Ophthalmology & Visual Science
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August 30, 2024
The Systemic Genotype-Phenotype Characterization of PAX6-Related Eye Disease in 164 Chinese Families
Yi Jiang, Zhen Yi, Yuxi Zheng, et al.
Experimental Eye Research
|
July 5, 2016
Molecular genetics of Leber congenital amaurosis in Chinese: New data from 66 probands and mutation overview of 159 probands
Yan Xu, Xueshan Xiao, Shiqiang Li, et al.
Investigative Ophthalmology & Visual Science
|
January 10, 2016
Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes
Wenmin Sun, Li Huang, Yan Xu, et al.
Genes
|
August 26, 2023
Clinical and Genetic Features of <i>NR2E3</i>-Associated Retinopathy: A Report of Eight Families with a Longitudinal Study and Literature Review
Sainan Xiao, Zhen Yi, Xueshan Xiao, et al.
Investigative Ophthalmology & Visual Science
|
September 14, 2011
Replication study supports CTNND2 as a susceptibility gene for high myopia
Boyu Lu, Dan Jiang, Panfeng Wang, et al.
Investigative Ophthalmology & Visual Science
|
May 19, 2021
Characterization of PROM1 p.Arg373Cys Variant in a Cohort of Chinese Patients: Macular Dystrophy Plus Peripheral Bone-Spicule Degeneration
Yingwei Wang, Panfeng Wang, Shiqiang Li, et al.
Investigative Ophthalmology & Visual Science
|
May 17, 2022
Autosomal Dominant Retinitis Pigmentosa-Associated TOPORS Protein Truncating Variants Are Exclusively Located in the Region of Amino Acid Residues 807 to 867
Junwen Wang, Yingwei Wang, Yi Jiang, et al.
Molecular Vision
|
September 6, 2018
Phenotypic characterization of patients with early-onset high myopia due to mutations in <i>COL2A1</i> or <i>COL11A1</i>: Why not Stickler syndrome?
Lin Zhou, Xueshan Xiao, Shiqiang Li, et al.
Investigative Ophthalmology & Visual Science
|
September 30, 2025
Pigmentation Pattern of Iris and Fundus in 75 Chinese Families With GPR143-Associated Ocular Albinism
Shuowei Chen, Zhen Yi, Yuxi Zheng, et al.
The British Journal of Ophthalmology
|
February 12, 2024
Variant and clinical landscape of Leber hereditary optic neuropathy based on 1516 families with mtDNA variants in a tertiary centre
Yuxi Zheng, Yingwei Wang, Yi Jiang, et al.
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Search research articles
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Showing results (61-70 of 95) with videos related to
Sort By:
Page
of 10
Investigative Ophthalmology & Visual Science
|
August 30, 2024
The Systemic Genotype-Phenotype Characterization of PAX6-Related Eye Disease in 164 Chinese Families
Yi Jiang, Zhen Yi, Yuxi Zheng, et al.
Experimental Eye Research
|
July 5, 2016
Molecular genetics of Leber congenital amaurosis in Chinese: New data from 66 probands and mutation overview of 159 probands
Yan Xu, Xueshan Xiao, Shiqiang Li, et al.
Investigative Ophthalmology & Visual Science
|
January 10, 2016
Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes
Wenmin Sun, Li Huang, Yan Xu, et al.
Genes
|
August 26, 2023
Clinical and Genetic Features of <i>NR2E3</i>-Associated Retinopathy: A Report of Eight Families with a Longitudinal Study and Literature Review
Sainan Xiao, Zhen Yi, Xueshan Xiao, et al.
Investigative Ophthalmology & Visual Science
|
September 14, 2011
Replication study supports CTNND2 as a susceptibility gene for high myopia
Boyu Lu, Dan Jiang, Panfeng Wang, et al.
Investigative Ophthalmology & Visual Science
|
May 19, 2021
Characterization of PROM1 p.Arg373Cys Variant in a Cohort of Chinese Patients: Macular Dystrophy Plus Peripheral Bone-Spicule Degeneration
Yingwei Wang, Panfeng Wang, Shiqiang Li, et al.
Investigative Ophthalmology & Visual Science
|
May 17, 2022
Autosomal Dominant Retinitis Pigmentosa-Associated TOPORS Protein Truncating Variants Are Exclusively Located in the Region of Amino Acid Residues 807 to 867
Junwen Wang, Yingwei Wang, Yi Jiang, et al.
Molecular Vision
|
September 6, 2018
Phenotypic characterization of patients with early-onset high myopia due to mutations in <i>COL2A1</i> or <i>COL11A1</i>: Why not Stickler syndrome?
Lin Zhou, Xueshan Xiao, Shiqiang Li, et al.
Investigative Ophthalmology & Visual Science
|
September 30, 2025
Pigmentation Pattern of Iris and Fundus in 75 Chinese Families With GPR143-Associated Ocular Albinism
Shuowei Chen, Zhen Yi, Yuxi Zheng, et al.
The British Journal of Ophthalmology
|
February 12, 2024
Variant and clinical landscape of Leber hereditary optic neuropathy based on 1516 families with mtDNA variants in a tertiary centre
Yuxi Zheng, Yingwei Wang, Yi Jiang, et al.
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