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Journal Articles (3)
Meeting Abstract (1)

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Investigative Ophthalmology & Visual Science (4)

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Genetics (3)
ARVO Annual Meeting Abstract (1)

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Genetics (3)
Biochemistry and Molecular Biology (1)
Eye Anatomy and Disorders (1)
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family (3)
genes (3)
mutation (3)
autosomal recessive inheritance (2)
homozygote (2)
cataract (1)
chinese (other dialects) (1)
chinese people (1)
congenital cataract (1)
dideoxy chain termination dna sequencing (1)

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ARVO Annual Meeting Abstract June 2017

Homozygosity mapping and Genetic analysis of autosomal recessive Retinal Dystrophies in 144 consanguineous Pakistani Families

lin li; Yabin Chen; Xiaodong Jiao; J. Fielding Hejtmancik

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3816. doi:

Genetics May 2017

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families

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Lin Li; Yabin Chen; Xiaodong Jiao; Chongfei Jin; Dan Jiang; Mukesh Tanwar; Zhiwei Ma; Li Huang; Xiaoyin Ma; Wenmin Sun; Jianjun Chen; Yan Ma; Oussama M'hamdi; Gowthaman Govindarajan; Patricia E. Cabrera; Jiali Li; Nikhil Gupta; Muhammad Asif Naeem; Shaheen N. Khan; Sheikh Riazuddin; Javed Akram; Radha Ayyagari; Paul A. Sieving; S. Amer Riazuddin; J. Fielding Hejtmancik
TAGS: mutation, family, genes, homozygote, autosomal recessive inheritance, genetic analysis, retinal dystrophies
Invest. Ophthalmol. Vis. Sci.. 2017; 58(4):2218-2238. doi: 10.1167/iovs.17-21424

Includes: Supplemental Content

Genetics April 2017

Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening

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Jianjun Chen; Qiwei Wang; Patricia E. Cabrera; Zilin Zhong; Wenmin Sun; Xiaodong Jiao; Yabin Chen; Gowthaman Govindarajan; Muhammad Asif Naeem; Shaheen N. Khan; Muhammad Hassaan Ali; Muhammad Zaman Assir; Fawad Ur Rahman; Zaheeruddin A. Qazi; Sheikh Riazuddin; Javed Akram; S. Amer Riazuddin; J. Fielding Hejtmancik
TAGS: genetics, molecular, mutation, cataract, family, genes, homozygote, autosomal recessive inheritance, screening, congenital cataract
Invest. Ophthalmol. Vis. Sci.. 2017; 58(4):2207-2217. doi: 10.1167/iovs.17-21469

Includes: Supplemental Content

Genetics June 2013

Comprehensive Mutation Analysis by Whole-Exome Sequencing in 41 Chinese Families With Leber Congenital Amaurosis

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Yabin Chen; Qingyan Zhang; Tao Shen; Xueshan Xiao; Shiqiang Li; Liping Guan; Jianguo Zhang; Zhihong Zhu; Ye Yin; Panfeng Wang; Xiangming Guo; Jun Wang; Qingjiong Zhang
TAGS: mutation, mutation analysis, family, genes, leber's amaurosis, dideoxy chain termination dna sequencing, chinese people, chinese (other dialects), whole exome sequencing
Invest. Ophthalmol. Vis. Sci.. 2013; 54(6):4351-4357. doi: 10.1167/iovs.13-11606

Includes: Supplemental Content

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Online ISSN: 1552-5783

Investigative Ophthalmology & Visual Science
Journal of Vision
Translational Vision Science & Technology

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Copyright © 2015 Association for Research in Vision and Ophthalmology.

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