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1دورية أكاديمية
المؤلفون: Fei Tang, Zhonghua Wang, Yan Sun, Linlin Fan, Yun Yang, Xueqin Guo, Yaoshen Wang, Saiying Yan, Zhihong Qiao, Yun Li, Ting Jiang, Xiaoli Wang, Jianfen Man, Lina Wang, Shunyao Wang, Huanhuan Peng, Zhiyu Peng, Xiaoyuan Xie, Lijie Song
المصدر: BMC Genomics, Vol 25, Iss 1, Pp 1-10 (2024)
مصطلحات موضوعية: AOH, RNN, LP-WGS, Biotechnology, TP248.13-248.65, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1471-2164
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2دورية أكاديمية
المؤلفون: Yeqing Qian, Jianjun Zhu, Zhiguo Tang, Yan Sun, Zhonghua Wang, Fei Tang, Yun Yang, Linlin Fan, Yixi Sun, Bei Liu, Min Chen, Yuqin Luo, Junjie Hu, Kai Yan, Jianfen Man, Lina Wang, Cangcang Jia, Ping Tang, Xinyi Zhu, Chaohong Wang, Junxiang Tang, Yuanyuan Xia, Xueqin Guo, Kang Zhang, Xiaoli Wang, Suping Li, Lijie Song, Jiansheng Zhu, Minyue Dong
المصدر: Clinical and Translational Medicine, Vol 14, Iss 7, Pp n/a-n/a (2024)
مصطلحات موضوعية: Medicine (General), R5-920
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2001-1326
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3دورية أكاديمية
المؤلفون: Yanqiu Liu, Shengju Hao, Xueqin Guo, Linlin Fan, Zhihong Qiao, Yaoshen Wang, Xiaoli Wang, Jianfen man, Lina Wang, Xiaoming Wei, Huanhuan Peng, Zhiyu Peng, Yan Sun, Lijie Song
المصدر: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-9 (2023)
مصطلحات موضوعية: Low pass genome sequencing, Mosaic CNVs, Mosaic aneuploidies, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1755-8794
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4دورية أكاديمية
المؤلفون: Yanqiu Liu, Liangwei Mao, Hui Huang, Wei Li, Jianfen Man, Wenqian Zhang, Lina Wang, Long Li, Yan Sun, Teng Zhai, Xueqin Guo, Lique Du, Jin Huang, Hao Li, Yang Wan, Xiaoming Wei
المصدر: Human Genome Variation, Vol 10, Iss 1, Pp 1-43 (2023)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2054-345X
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5دورية أكاديمية
المؤلفون: Yanqiu Liu, Xiaoming Wei, Xiangdong Kong, Xueqin Guo, Yan Sun, Jianfen Man, Lique Du, Hui Zhu, Zelan Qu, Ping Tian, Bing Mao, Yun Yang
المصدر: PLoS ONE, Vol 11, Iss 1, p e0148154 (2016)
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Yanqiu Liu, Xiaoming Wei, Xiangdong Kong, Xueqin Guo, Yan Sun, Jianfen Man, Lique Du, Hui Zhu, Zelan Qu, Ping Tian, Bing Mao, Yun Yang
المصدر: PLoS ONE, Vol 10, Iss 9, p e0139258 (2015)
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Yanqiu Liu, Xiaoming Wei, Xiangdong Kong, Xueqin Guo, Yan Sun, Jianfen Man, Lique Du, Hui Zhu, Zelan Qu, Ping Tian, Bing Mao, Yun Yang
المصدر: PLoS ONE, Vol 10, Iss 8, p e0133636 (2015)
وصف الملف: electronic resource
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8دورية أكاديمية
المؤلفون: Yeqing Qian, Yan Sun, Xueqin Guo, Lijie Song, Yixi Sun, Xiaoyang Gao, Bei Liu, Yuqing Xu, Na Chen, Min Chen, Yuqin Luo, Zhihong Qiao, Linlin Fan, Jianfen Man, Kang Zhang, Xiaoli Wang, Tingting Rong, Zhonghua Wang, Fengxia Liu, Jing Zhao
المصدر: Journal of Medical Genetics; Oct2023, Vol. 60 Issue 10, p933-938, 10p
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9
المؤلفون: Xueqin Guo, Yan Sun, Hui Huang, Lina Wang, Wenqian Zhang, Xiaoming Wei, Wei Li, Yang Wan, Liangwei Mao, Lique Du, Hao Li, Long Li, Yanqiu Liu, Teng Zhai, Huang Jin, Jianfen Man
مصطلحات موضوعية: Exon, Clinical diagnosis, Coding region, Human genome, Lower cost, Single gene, Computational biology, Copy-number variation, Biology, Gene
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::201673bdc588ae75b8c2736de6e6a660
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10Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platform
المؤلفون: Jianfen Man, Chengbin Yan, Jing Yuan, Yun Yang, Limin Wu, Xuan Wu, Weijun Pan, Lique Du, Liangwei Mao, Xiaoli Cui, Yan Sun, Wei Li, Karsten Kristiansen, Min Li
المصدر: Medicine
Sun, Y, Yuan, J, Wu, L, Li, M, Cui, X, Yan, C, Du, L, Mao, L, Man, J, Li, W, Kristiansen, K, Wu, X, Pan, W, Yang, Y & Yang, Y 2019, ' Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platform ', Medicine, vol. 98, no. 12, e14860, pp. 1-7 . https://doi.org/10.1097/MD.0000000000014860مصطلحات موضوعية: Male, China, mutation detection, Adolescent, DNA Copy Number Variations, Hearing loss, BGISEQ-500, Observational Study, Disease, Bioinformatics, medicine.disease_cause, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Heredity, otorhinolaryngologic diseases, medicine, Missense mutation, Humans, targeted NGS, Genetic Predisposition to Disease, 030212 general & internal medicine, Copy-number variation, Indel, Child, Hearing Loss, Genetic testing, hearing loss, medicine.diagnostic_test, business.industry, High-Throughput Nucleotide Sequencing, General Medicine, Molecular diagnostics, 030220 oncology & carcinogenesis, Child, Preschool, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Female, medicine.symptom, business, Research Article
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c46ba025a93c5a39ef89333e515c26c1
http://europepmc.org/articles/PMC6709004