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1Academic Journal
المؤلفون: Liu, Hong‐Li, Zhang, Dao‐Wei, Hu, Fang‐Yuan, Xu, Ping, Zhang, Sheng‐Hai, Wu, Ji‐Hong
المساهمون: Program of Shanghai Academic Research Leader, National Natural Science Foundation of China
المصدر: Molecular Genetics & Genomic Medicine ; volume 11, issue 9 ; ISSN 2324-9269 2324-9269
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2Academic Journal
المؤلفون: Li, Wei, Jiang, Xiao-Sen, Han, Dong-Ming, Gao, Jia-Yu, Yang, Zheng-Tao, Jiang, Li, Zhang, Qian, Zhang, Sheng-Hai, Gao, Ya, Wu, Ji-Hong, Li, Jian-Kang
المساهمون: National Natural Science Foundation of China
المصدر: Frontiers in Genetics ; volume 13 ; ISSN 1664-8021
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3Academic Journal
المؤلفون: Gao, Feng-Juan, Wang, Dan-Dan, Li, Jian-Kang, Hu, Fang-Yuan, Xu, Ping, Chen, Fang, Qi, Yu-He, Liu, Wei, Li, Wei, Zhang, Sheng-Hai, Chang, Qing, Xu, Ge-Zhi, Wu, Ji-Hong
المصدر: Gao , F-J , Wang , D-D , Li , J-K , Hu , F-Y , Xu , P , Chen , F , Qi , Y-H , Liu , W , Li , W , Zhang , S-H , Chang , Q , Xu , G-Z & Wu , J-H 2021 , ' Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population ' , Orphanet Journal of Rare Diseases , vol. 16 , 174 . https://doi.org/10.1186/s13023-021-01807-3
مصطلحات موضوعية: Inherited retinal dystrophy, RPE65 gene mutations, Next-generation sequencing, Chinese population, Genotype–, phenotype correlations
وصف الملف: application/pdf
الاتاحة: https://curis.ku.dk/portal/da/publications/frequency-and-phenotypic-characteristics-of-rpe65-mutations-in-the-chinese-population(703adb4c-31d7-4c59-a544-c64e30c6b535).html
https://doi.org/10.1186/s13023-021-01807-3
https://curis.ku.dk/ws/files/262899591/Frequency_and_phenotypic_characteristics_of_RPE65_mutations_in_the_Chinese_population.pdf -
4Academic Journal
المؤلفون: Gao, Feng-Juan, Wang, Dan-Dan, Hu, Fang-Yuan, Xu, Ping, Chang, Qing, Li, Jian-Kang, Liu, Wei, Zhang, Sheng-Hai, Xu, Ge-Zhi, Wu, Ji-Hong
المصدر: Eye ; volume 36, issue 11, page 2122-2129 ; ISSN 0950-222X 1476-5454
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5Academic Journal
المؤلفون: Li, Jian-Kang, Li, Li‐Li, Li, Wei, Wang, Zi‐Wei, Gao, Feng‐Juan, Hu, Fang-Yuan, Zhang, Sheng‐Hai, Qu, Shou-Fang, Huang, Jie, Wang, Lu-Sheng, Wu, Ji-Hong, Chen, Fang
المصدر: Molecular Genetics & Genomic Medicine ; volume 8, issue 7 ; ISSN 2324-9269 2324-9269
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6Academic Journal
المؤلفون: Wang, Dan-Dan, Gao, Feng-Juan, Hu, Fang-Yuan, Zhang, Sheng-Hai, Xu, Ping, Wu, Ji-Hong
المساهمون: the National Natural Science Foundation of China, the Non-profit Central Research Institute Fund of Chinese Academy of Medical Sciences
المصدر: BMC Medical Genetics ; volume 21, issue 1 ; ISSN 1471-2350
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7Academic Journal
المؤلفون: Hu, Fang-Yuan, Gao, Feng-Juan, Li, Jian-kang, Xu, Ping, Wang, Dan-Dan, Zhang, Sheng-Hai, Wu, Ji-Hong
المساهمون: National Natural Science Foundation of China, Non-profit Central Research Institute Fund of Chinese Academy of Medical Sciences, Xuhui District Health and Family Planning Commission Key Disease Joint Project, Outstanding Academic Leaders in Shanghai, Program for Outstanding Medical Academic Leader, Aging and women’s and children’s health Special project of Shanghai Municipal Health Commission
المصدر: BMC Medical Genetics ; volume 21, issue 1 ; ISSN 1471-2350
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8Academic Journal
المؤلفون: Hu, Fang-Yuan, Gao, Feng-Juan, Xu, Ping, Zhang, Sheng-Hai, Wu, Ji-Hong
المساهمون: National Natural Science Foundation of China, Chinese Academy of Medical Sciences
المصدر: Frontiers in Bioengineering and Biotechnology ; volume 8 ; ISSN 2296-4185
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9Academic Journal
المؤلفون: Hu, Fang-Yuan, Li, Jian-kang, Gao, Feng-Juan, Qi, Yu-He, Xu, Ping, Zhang, Yong-Jin, Wang, Dan-Dan, Wang, Lu-Sheng, Li, Wei, Wang, Min, Chen, Fang, Shen, Si-Mai, Xu, Ge-Zhi, Zhang, Sheng-Hai, Chang, Qing, Wu, Ji-Hong
المصدر: Hu , F-Y , Li , J , Gao , F-J , Qi , Y-H , Xu , P , Zhang , Y-J , Wang , D-D , Wang , L-S , Li , W , Wang , M , Chen , F , Shen , S-M , Xu , G-Z , Zhang , S-H , Chang , Q & Wu , J-H 2019 , ' ABCA4 Gene Screening in a Chinese Cohort With Stargardt Disease : Identification of 37 Novel Variants ' , Frontiers in Genetics , vol. 10 , 773 . https://doi.org/10.3389/fgene.2019.00773
مصطلحات موضوعية: STGD1, next-generation sequencing, ABCA4 gene, mutation spectrum, variant frequency
وصف الملف: application/pdf
الاتاحة: https://curis.ku.dk/portal/da/publications/abca4-gene-screening-in-a-chinese-cohort-with-stargardt-disease(20343ed6-9af7-4343-886d-b8057a1446d7).html
https://doi.org/10.3389/fgene.2019.00773
https://curis.ku.dk/ws/files/227513941/ABCA4_Gene_Screening_in_a_Chinese_Cohort_With_Stargardt_Disease.pdf -
10Academic Journal
المؤلفون: Wang, Dan-Dan, Hu, Fang-Yuan, Gao, Feng-Juan, Zhang, Sheng-Hai, Xu, Ping, Tian, Guo-Hong, Wu, Ji-Hong
المساهمون: National Natural Science Foundation of China
المصدر: Frontiers in Genetics ; volume 10 ; ISSN 1664-8021
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11Academic Journal
المؤلفون: Gao, Feng-Juan, Li, Jian-Kang, Chen, Han, Hu, Fang-Yuan, Zhang, Sheng-Hai, Qi, Yu-He, Xu, Ping, Wang, Dan-Dan, Wang, Lu-Sheng, Chang, Qing, Zhang, Yong-Jin, Liu, Wei, Li, Wei, Wang, Min, Chen, Fang, Xu, Ge-Zhi, Wu, Ji-Hong
المصدر: Ophthalmology ; volume 126, issue 11, page 1549-1556 ; ISSN 0161-6420
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12Academic Journal
المؤلفون: Wang, Jia-Jian, Shan, Kun, Liu, Bai-Hui, Liu, Chang, Zhou, Rong-Mei, Li, Xiu-Miao, Dong, Rui, Zhang, Shu-Jie, Zhang, Sheng-Hai, Wu, Ji-Hong, Yan, Biao
المصدر: Cell Death & Disease ; volume 9, issue 5 ; ISSN 2041-4889
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13Academic Journal
المؤلفون: Huang, Xiao-Yan, Zhuang, Hong, Wu, Ji-Hong, Li, Jian-Kang, Hu, Fang-Yuan, Zheng, Yu, Tellier, Laurent Christian Asker M., Zhang, Sheng-Hai, Gao, Feng-Juan, Zhang, Jian-Guo, Xu, Ge-Zhi
المصدر: Huang , X-Y , Zhuang , H , Wu , J-H , Li , J-K , Hu , F-Y , Zheng , Y , Tellier , L C A M , Zhang , S-H , Gao , F-J , Zhang , J-G & Xu , G-Z 2017 , ' Targeted next-generation sequencing analysis identifies novel mutations in families with severe familial exudative vitreoretinopathy ' , Molecular Vision , vol. 23 , pp. 605-613 . < http://www.molvis.org/molvis/v23/605/ >
وصف الملف: application/pdf
الاتاحة: https://curis.ku.dk/portal/da/publications/targeted-nextgeneration-sequencing-analysis-identifies-novel-mutations-in-families-with-severe-familial-exudative-vitreoretinopathy(e479e0ca-b65c-4959-933c-e84132cce309).html
https://curis.ku.dk/ws/files/188444742/Huang_2017_Targeted_next_generation.pdf
http://www.molvis.org/molvis/v23/605/ -
14Academic Journal
المؤلفون: Gao, Feng, Li, Fang, Miao, Yanying, Xu, Lin-Jie, Zhao, Yuan, Li, Qian, Zhang, Sheng-Hai, Wu, Jihong, Sun, Xing-Huai, Wang, Zhongfeng
المصدر: Scientific Reports ; volume 7, issue 1 ; ISSN 2045-2322
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15Academic Journal
المؤلفون: Shan, Kun, Liu, Chang, Liu, Bai-Hui, Chen, Xue, Dong, Rui, Liu, Xin, Zhang, Yang-Yang, Liu, Ban, Zhang, Shu-Jie, Wang, Jia-Jian, Zhang, Sheng-Hai, Wu, Ji-Hong, Zhao, Chen, Yan, Biao
المصدر: Circulation ; volume 136, issue 17, page 1629-1642 ; ISSN 0009-7322 1524-4539
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16Academic Journal
المؤلفون: Qi, Yu-He, Gao, Feng-Juan, Hu, Fang-Yuan, Zhang, Sheng-Hai, Chen, Jun-Yi, Huang, Wan-Jing, Tian, Guo-Hong, Wang, Min, Gan, De-Kang, Wu, Ji-Hong, Xu, Ge-Zhi
المساهمون: National Natural Science Foundation of China
المصدر: Frontiers in Genetics ; volume 8 ; ISSN 1664-8021
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17Academic Journal
المؤلفون: Gao, Feng-Juan, Zhang, Sheng-Hai, Xu, Ping, Yang, Bo-Qi, Zhang, Rong, Cheng, Yun, Zhou, Xu-Jiao, Huang, Wan-Jing, Wang, Min, Chen, Jun-Yi, Sun, Xing-Huai, Wu, Ji-Hong
المساهمون: National Natural Science Foundation of China
المصدر: Frontiers in Molecular Neuroscience ; volume 10 ; ISSN 1662-5099
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18Academic Journal
المؤلفون: Gao, Feng-Juan, Zhang, Sheng-Hai, Li, Ting-Ting, Wu, Ji-Hong, Wu, Qiang
المساهمون: National Natural Science Foundation of China
المصدر: Frontiers in Human Neuroscience ; volume 10 ; ISSN 1662-5161
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19Academic Journal
المؤلفون: Zhang, Sheng-Hai, Gao, Feng-Juan, Sun, Zhong-Mou, Xu, Ping, Chen, Jun-Yi, Sun, Xing-Huai, Wu, Ji-Hong
المساهمون: National Key Basic Research Program of China, National Natural Science Foundation of China, Natural Science Foundation of Shanghai, Science and Technology Commission of Shanghai Municipality
المصدر: Frontiers in Cellular Neuroscience ; volume 10 ; ISSN 1662-5102
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20Academic Journal
المؤلفون: Lu, Nian, Zhang, Wei-jing, Dong, Lu, Chen, Jun-ying, Zhu, Yan-lin, Zhang, Sheng-hai, Fu, Jian-hua, Yin, Shao-han, Li, Zhi-Cheng, Xie, Chuan-miao
المساهمون: Youth Innovation Promotion Association of the Chinese Academy of Sciences, National Key Research and Development Program of China, National Key Research and Development Program of China Stem Cell and Translational Research
المصدر: Computer Methods and Programs in Biomedicine ; volume 208, page 106287 ; ISSN 0169-2607