Clinical and Genetic Analysis of 63 Families Demonstrating Early and Advanced Characteristic Fundus as the Signature of CRB1 Mutations
Wang, Yingwei, Sun, Wenmin, Xiao, Xueshan, Li, Shiqiang, Jia, Xiaoyun, Wang, Panfeng, Zhang, Qingjiong
Published in American journal of ophthalmology (01.03.2021)
Published in American journal of ophthalmology (01.03.2021)
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Journal Article
Exome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene
Sun, Wenmin, Xiao, Xueshan, Li, Shiqiang, Guo, Xiangming, Zhang, Qingjiong
Published in PloS one (26.06.2014)
Published in PloS one (26.06.2014)
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Journal Article
Pathogenic variants and associated phenotypic spectrum of TSPAN12 based on data from a large cohort
Sun, Wenmin, Xiao, Xueshan, Li, Shiqiang, Jia, Xiaoyun, Wang, Panfeng, Zhang, Qingjiong
Published in Graefe's archive for clinical and experimental ophthalmology (01.10.2021)
Published in Graefe's archive for clinical and experimental ophthalmology (01.10.2021)
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Journal Article
Altered chromatin topologies caused by balanced chromosomal translocation lead to central iris hypoplasia
Sun, Wenmin, Xiong, Dan, Ouyang, Jiamin, Xiao, Xueshan, Jiang, Yi, Wang, Yingwei, Li, Shiqiang, Xie, Ziying, Wang, Junwen, Tang, Zhonghui, Zhang, Qingjiong
Published in Nature communications (13.06.2024)
Published in Nature communications (13.06.2024)
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Journal Article
Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia
Jiang, Yi, Xiao, Xueshan, Sun, Wenmin, Wang, Yingwei, Li, Shiqiang, Jia, Xiaoyun, Wang, Panfeng, Hejtmancik, J Fielding, Zhang, Qingjiong
Published in Journal of translational medicine (19.01.2024)
Published in Journal of translational medicine (19.01.2024)
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Journal Article
Effect of heat treatment on transformation-induced plasticity of economical Cr19 duplex stainless steel
Ran, Qingxuan, Xu, Yulai, Li, Jun, Wan, Jianquan, Xiao, Xueshan, Yu, Haifeng, Jiang, Laizhu
Published in Materials in engineering (01.04.2014)
Published in Materials in engineering (01.04.2014)
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Journal Article
Gd effect on microstructure and properties of the Modified-690 alloy for function structure integrated thermal neutron shielding
Zhang, Cheng, Pan, Jie, Wang, Zixie, Wu, Zhaoyu, Mei, Qiliang, Ding, Qianxue, Gao, Jing, Xiao, Xueshan
Published in Nuclear engineering and technology (01.05.2023)
Published in Nuclear engineering and technology (01.05.2023)
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Journal Article
Genetic and Clinical Analyses of DOA and LHON in 304 Chinese Patients with Suspected Childhood-Onset Hereditary Optic Neuropathy
Li, Yadi, Li, Jie, Jia, Xiaoyun, Xiao, Xueshan, Li, Shiqiang, Guo, Xiangming
Published in PloS one (12.01.2017)
Published in PloS one (12.01.2017)
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Journal Article
Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature
Zhu, Di, Wang, Junwen, Wang, Yingwei, Jiang, Yi, Li, Shiqiang, Xiao, Xueshan, Wang, Panfeng, Zhang, Qingjiong
Published in International journal of molecular sciences (01.03.2023)
Published in International journal of molecular sciences (01.03.2023)
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Journal Article
Identification of CYP4V2 mutation in 21 families and overview of mutation spectrum in Bietti crystalline corneoretinal dystrophy
Xiao, Xueshan, Mai, Guiying, Li, Shiqiang, Guo, Xiangming, Zhang, Qingjiong
Published in Biochemical and biophysical research communications (03.06.2011)
Published in Biochemical and biophysical research communications (03.06.2011)
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Journal Article
Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis
Li, Lin, Xiao, Xueshan, Li, Shiqiang, Jia, Xiaoyun, Wang, Panfeng, Guo, Xiangming, Jiao, Xiaodong, Zhang, Qingjiong, Hejtmancik, J Fielding
Published in PloS one (13.05.2011)
Published in PloS one (13.05.2011)
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Journal Article
Retinopathy as an initial sign of hereditary immunological diseases: report of six families and challenges in eye clinic
Wang, Yingwei, Jiang, Yi, Wang, Junwen, Li, Shiqiang, Jia, Xiaoyun, Xiao, Xueshan, Sun, Wenmin, Wang, Panfeng, Zhang, Qingjiong
Published in Frontiers in immunology (28.08.2023)
Published in Frontiers in immunology (28.08.2023)
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Journal Article
Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands
Huang, Li, Xiao, Xueshan, Li, Shiqiang, Jia, Xiaoyun, Wang, Panfeng, Sun, Wenmin, Xu, Yan, Xin, Wei, Guo, Xiangming, Zhang, Qingjiong
Published in Experimental eye research (01.05.2016)
Published in Experimental eye research (01.05.2016)
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Journal Article
Effect of microstructure evolution in austenite zone on mechanical properties of Fe-10Mn-5.5Al-0.25C steel
Peng, Wei, Gao, Xinqiang, Guo, Xiaofei, Lu, Hengchang, Li, Guangshi, Xiao, Xueshan, Xu, Dexiang, Wei, Xicheng, Dong, Han
Published in Materials & design (01.11.2020)
Published in Materials & design (01.11.2020)
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Journal Article
Relationship between Ti/Al ratio and stress-rupture properties in nickel-based superalloy
Xu, Yulai, Zhang, Lei, Li, Jun, Xiao, Xueshan, Cao, Xiuli, Jia, Guoqing, Shen, Zhi
Published in Materials science & engineering. A, Structural materials : properties, microstructure and processing (15.05.2012)
Published in Materials science & engineering. A, Structural materials : properties, microstructure and processing (15.05.2012)
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Journal Article
An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases
Wang, Panfeng, Li, Shiqiang, Sun, Wenming, Xiao, Xueshan, Jia, Xiaoyun, Liu, Mengchu, Xu, Lieqiang, Long, Yuxi, Zhang, Qingjiong
Published in Translational vision science & technology (01.03.2019)
Published in Translational vision science & technology (01.03.2019)
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Journal Article
Identification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel Analysis
Xin, Wei, Xiao, Xueshan, Li, Shiqiang, Jia, Xiaoyun, Guo, Xiangming, Zhang, Qingjiong
Published in PloS one (10.07.2015)
Published in PloS one (10.07.2015)
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