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

URL الوصول: https://doaj.org/article/e9c3699ff09247ab87757ead94fafbd1

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

URL الوصول: https://doaj.org/article/d3cc505edba54578a0be910ab2417134

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

URL الوصول: https://doaj.org/article/7532e7768835453c8d80315189966453

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)

مصطلحات موضوعية: Genetics, QH426-470, Life, QH501-531

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2054-345X

URL الوصول: https://doaj.org/article/1714d41afc0d4a33a325a0fab8a74cb5

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)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4731064?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/e1df6b31342e49449ff3d50b55dd2725

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)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4579126?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/f7f12b0c048447c2bfb7ec22f4aa15db

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)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4537117?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/d225883a4e414a2a9b3a7692f727bdbe

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

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

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.0000000000014860

مصطلحات 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