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: 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

المؤلفون: Yin Shen, Mufei Lin, Liangwei Mao, Jing Yu, Cheng Zhengyu, Chen Fan, Jianfen Man, Lique Du, Xiaoming Wei, Yun Yang, Yan Sun, Long Li, Yang Wan, Karsten Kristiansen, Qing Gao, Gao Pan, Liru Qiu, Handong Dan

المصدر: Scientific Reports, Vol 8, Iss 1, Pp 1-9 (2018)
Sun, Y, Man, J, Wan, Y, Pan, G, Du, L, Li, L, Yang, Y, Qiu, L, Gao, Q, Dan, H, Mao, L, Cheng, Z, Fan, C, Yu, J, Lin, M, Kristiansen, K, Shen, Y & Wei, X 2018, ' Targeted next-generation sequencing as a comprehensive test for Mendelian diseases : a cohort diagnostic study ', Scientific Reports, vol. 8, 11646, pp. 1-9 . https://doi.org/10.1038/s41598-018-30151-z
Scientific Reports

مصطلحات موضوعية: 0301 basic medicine, Nonsynonymous substitution, Heterozygote, lcsh:Medicine, Disease, Computational biology, Polymorphism, Single Nucleotide, Genetic analysis, Article, DNA sequencing, Cohort Studies, 03 medical and health sciences, symbols.namesake, Exome Sequencing, Humans, Medicine, In patient, Genetic Testing, lcsh:Science, Multidisciplinary, Whole Genome Sequencing, business.industry, lcsh:R, Genetic Diseases, Inborn, High-Throughput Nucleotide Sequencing, Sequence Analysis, DNA, 030104 developmental biology, Clinical diagnosis, Mutation, Cohort, Mendelian inheritance, symbols, lcsh:Q, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acdd31c637b74f4dab8c90c48bece075
https://doi.org/10.1038/s41598-018-30151-z

المؤلفون: Qinqin Deng, Yin Shen, Xinlan Lei, Yifan Liu, Yongqing Tong, Qing Gao, Lique Du

المصدر: Biochemical genetics. 57(4)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Models, Molecular, Heterozygote, Mutant, Mutation, Missense, Cyclic Nucleotide-Gated Cation Channels, Genes, Recessive, Gene mutation, Biology, Compound heterozygosity, Transfection, Biochemistry, Conserved sequence, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Protein Domains, Retinitis pigmentosa, Genetics, medicine, Humans, Molecular Biology, Ecology, Evolution, Behavior and Systematics, Sequence Deletion, Sanger sequencing, Cell Membrane, High-Throughput Nucleotide Sequencing, General Medicine, Sequence Analysis, DNA, medicine.disease, Molecular biology, Recombinant Proteins, Pedigree, 030104 developmental biology, HEK293 Cells, Membrane protein, Amino Acid Substitution, 030220 oncology & carcinogenesis, Mutation (genetic algorithm), symbols, Female, Mutant Proteins, Retinitis Pigmentosa

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e73cdf63e44bbe3602d542a2f1ee9d4
https://pubmed.ncbi.nlm.nih.gov/30652268

المؤلفون: Long Li, Yong Wang, Lique Du, Yan Sun, Xueqin Guo, Yun Yang, Mingkun Shao, Xiaoming Wei, Jianping Xiao

المصدر: European journal of ophthalmology. 27(6)

مصطلحات موضوعية: 0301 basic medicine, Proband, Adult, Male, PRPF31, DNA Mutational Analysis, DNA sequencing, 03 medical and health sciences, Asian People, Retinitis pigmentosa, medicine, Humans, Disease-causing Mutation, Eye Proteins, Genetics, business.industry, High-Throughput Nucleotide Sequencing, General Medicine, medicine.disease, Pedigree, Ophthalmology, 030104 developmental biology, Phenotype, Mutation, Identification (biology), business, Retinitis Pigmentosa

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a40ea040ecf190586a37954502f902af
https://pubmed.ncbi.nlm.nih.gov/28430325

المؤلفون: Bing Mao, Xiaoming Wei, Lique Du, Xueqin Guo, Xiangdong Kong, Ping Tian, Yun Yang, Yan Sun, Jianfen Man, Hui Zhu, Zelan Qu, Yanqiu Liu

المصدر: PLoS ONE, Vol 10, Iss 8, p e0133636 (2015)
PLoS ONE

مصطلحات موضوعية: Genetics, Sanger sequencing, Mutation, Multidisciplinary, lcsh:R, Correction, lcsh:Medicine, Single-nucleotide polymorphism, Biology, medicine.disease_cause, DNA sequencing, law.invention, symbols.namesake, law, Genotype, medicine, symbols, lcsh:Q, Copy-number variation, lcsh:Science, Polymerase chain reaction, SNP array, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c303f0a65031a3be683addd4ca48c1bf
http://europepmc.org/articles/PMC4537117?pdf=render