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American Journal of Medical Genetics. Part A
|
January 20, 2026
Genetic and Clinical Features of FOXL2-Associated Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Based on 11 Chinese Families and Literature Review
Yijun Dong, Xueshan Xiao, Shiqiang Li, et al.
Molecular Vision
|
May 26, 2021
Heterozygous <i>GJA1</i> variants with ocular phenotype: Missense in domain but truncation out of domain
Xueqing Li, Xueshan Xiao, Shiqiang Li, et al.
Frontiers in Genetics
|
November 8, 2021
Genotype-Phenotype Analysis of <i>RPGR</i> Variations: Reporting of 62 Chinese Families and a Literature Review
Junxing Yang, Lin Zhou, Jiamin Ouyang, et al.
Acta Ophthalmologica
|
February 9, 2022
Landscape of pathogenic variants in six pre-mRNA processing factor genes for retinitis pigmentosa based on large in-house data sets and database comparisons
Junwen Wang, Xueshan Xiao, Shiqiang Li, et al.
American Journal of Ophthalmology
|
December 21, 2020
Clinical and Genetic Analysis of 63 Families Demonstrating Early and Advanced Characteristic Fundus as the Signature of CRB1 Mutations
Yingwei Wang, Wenmin Sun, Xueshan Xiao, et al.
The British Journal of Ophthalmology
|
June 22, 2021
Biallelic variants in <i>CPAMD8</i> are associated with primary open-angle glaucoma and primary angle-closure glaucoma
Xueqing Li, Wenmin Sun, Xueshan Xiao, et al.
Clinical Genetics
|
August 22, 2022
Variants in HNRNPH1 are associated with high myopia in humans and ocular coloboma in zebrafish
Jiamin Ouyang, Shiqiang Li, Wenmin Sun, et al.
Human Genetics
|
April 6, 2020
Structural variations in a non-coding region at 1q32.1 are responsible for the NYS7 locus in two large families
Wenmin Sun, Shiqiang Li, Xiaoyun Jia, et al.
Experimental Eye Research
|
August 16, 2022
Genetic and clinical features of BEST1-associated retinopathy based on 59 Chinese families and database comparisons
Yingwei Wang, Yi Jiang, Xueqing Li, et al.
Molecular Genetics & Genomic Medicine
|
January 18, 2021
Clinical manifestation and genetic analysis in Chinese early onset X-linked retinoschisis
Li Huang, Limei Sun, Zhirong Wang, et al.
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Showing results (31-40 of 95) with videos related to
Sort By:
Page
of 10
American Journal of Medical Genetics. Part A
|
January 20, 2026
Genetic and Clinical Features of FOXL2-Associated Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Based on 11 Chinese Families and Literature Review
Yijun Dong, Xueshan Xiao, Shiqiang Li, et al.
Molecular Vision
|
May 26, 2021
Heterozygous <i>GJA1</i> variants with ocular phenotype: Missense in domain but truncation out of domain
Xueqing Li, Xueshan Xiao, Shiqiang Li, et al.
Frontiers in Genetics
|
November 8, 2021
Genotype-Phenotype Analysis of <i>RPGR</i> Variations: Reporting of 62 Chinese Families and a Literature Review
Junxing Yang, Lin Zhou, Jiamin Ouyang, et al.
Acta Ophthalmologica
|
February 9, 2022
Landscape of pathogenic variants in six pre-mRNA processing factor genes for retinitis pigmentosa based on large in-house data sets and database comparisons
Junwen Wang, Xueshan Xiao, Shiqiang Li, et al.
American Journal of Ophthalmology
|
December 21, 2020
Clinical and Genetic Analysis of 63 Families Demonstrating Early and Advanced Characteristic Fundus as the Signature of CRB1 Mutations
Yingwei Wang, Wenmin Sun, Xueshan Xiao, et al.
The British Journal of Ophthalmology
|
June 22, 2021
Biallelic variants in <i>CPAMD8</i> are associated with primary open-angle glaucoma and primary angle-closure glaucoma
Xueqing Li, Wenmin Sun, Xueshan Xiao, et al.
Clinical Genetics
|
August 22, 2022
Variants in HNRNPH1 are associated with high myopia in humans and ocular coloboma in zebrafish
Jiamin Ouyang, Shiqiang Li, Wenmin Sun, et al.
Human Genetics
|
April 6, 2020
Structural variations in a non-coding region at 1q32.1 are responsible for the NYS7 locus in two large families
Wenmin Sun, Shiqiang Li, Xiaoyun Jia, et al.
Experimental Eye Research
|
August 16, 2022
Genetic and clinical features of BEST1-associated retinopathy based on 59 Chinese families and database comparisons
Yingwei Wang, Yi Jiang, Xueqing Li, et al.
Molecular Genetics & Genomic Medicine
|
January 18, 2021
Clinical manifestation and genetic analysis in Chinese early onset X-linked retinoschisis
Li Huang, Limei Sun, Zhirong Wang, et al.
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of 10