المؤلفون: Li, Wei, Qu, Ning, Li, Jian-Kang, Li, Yu-Xin, Han, Dong-Ming, Chen, Yi-Xi, Tian, Le, Shao, Kang, Yang, Wen, Wang, Zhuo-Shi, Chen, Xuan, Jin, Xiao-Ying, Wang, Zi-Wei, Liang, Chen, Qian, Wei-Ping, Wang, Lu-Sheng, He, Wei

المساهمون: National Natural Science Foundation of China-Guangdong Joint Fund, Shenyang Science and Technology Bureau, Innovation and Technology Commission - Hong Kong

المصدر: Frontiers in Cell and Developmental Biology ; volume 9 ; ISSN 2296-634X

الاتاحة: http://dx.doi.org/10.3389/fcell.2021.632946
https://www.frontiersin.org/articles/10.3389/fcell.2021.632946/full

المؤلفون: Sun, Yan, Li, Jian-kang, He, Wei, Wang, Zhuo-shi, Bai, Jin-yue, Xu, Ling, Xing, Bo, Zhang, Jian-guo, Wang, Lusheng, Li, Wei, Chen, Fang

المصدر: Sun , Y , Li , J , He , W , Wang , Z , Bai , J , Xu , L , Xing , B , Zhang , J , Wang , L , Li , W & Chen , F 2020 , ' Genetic and clinical analysis in Chinese patients with retinitis pigmentosa caused by EYS mutations ' , Molecular Genetics and Genomic Medicine , vol. 8 , no. 3 , e1117 . https://doi.org/10.1002/mgg3.1117

مصطلحات موضوعية: blue blindness, mutation spectrum, panel-based targeted exome sequencing, retinitis pigmentosa

وصف الملف: application/pdf

الاتاحة: https://curis.ku.dk/portal/da/publications/genetic-and-clinical-analysis-in-chinese-patients-with-retinitis-pigmentosa-caused-by-eys-mutations(6c6b28ed-9c20-411c-8a95-a089e7746c68).html
https://doi.org/10.1002/mgg3.1117
https://curis.ku.dk/ws/files/237323702/Genetic_and_clinical_analysis_in_Chinese_patients_with_retinitis_pigmentosa_caused_by_EYS_mutations.pdf

المؤلفون: Sun, Yan, Li, Wei, Li, Jian‐kang, Wang, Zhuo‐shi, Bai, Jin‐yue, Xu, Ling, Xing, Bo, Yang, Wen, Wang, Zi‐wei, Wang, Lu‐sheng, He, Wei, Chen, Fang

المساهمون: Shenyang Science and Technology Bureau

المصدر: Molecular Genetics & Genomic Medicine ; volume 8, issue 4 ; ISSN 2324-9269 2324-9269

الاتاحة: http://dx.doi.org/10.1002/mgg3.1184
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmgg3.1184
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1184
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/mgg3.1184

المؤلفون: Li, Wei, He, Xiang-Dong, Yang, Zheng-Tao, Han, Dong-Ming, Sun, Yan, Chen, Yanxian, Han, Xiao-Tong, Guo, Si-Cheng, Ma, Yu-Ting, Jin, Xin, Yang, Huan-Ming, Gao, Ya, Wang, Zhuo-Shi, Li, Jian-Kang, He, Wei

مصطلحات الفهرس: inherited eye diseases (IED), targeted exome sequencing, proband-parent trio, de novo mutation (DNM), genetic landscape, Article

URL: http://repository.hkust.edu.hk/ir/Record/1783.1-125107
https://doi.org/10.1167/iovs.64.2.5
http://lbdiscover.ust.hk/uresolver?url_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rfr_id=info:sid/HKUST:SPI&rft.genre=article&rft.issn=1552-5783&rft.volume=64&rft.issue=2&rft.date=2023&rft.spage=5&rft.epage=&rft.aulast=Li&rft.aufirst=W.&rft.atitle=De+Novo+Mutations+Contributes+Approximately+7%25+of+Pathogenicity+in+Inherited+Eye+Diseases&rft.title=Investigative+ophthalmology+%26+visual+science
http://www.scopus.com/record/display.url?eid=2-s2.0-85147318916&origin=inward
http://gateway.isiknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=LinksAMR&SrcApp=PARTNER_APP&DestLinkType=FullRecord&DestApp=WOS&KeyUT=000998155400009