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1دورية أكاديمية
المؤلفون: Mingrui Lin, Tengfei Shi, Xiaoyan Guo, Yiyuan Zhang
المصدر: The Tohoku Journal of Experimental Medicine. 2019, 249(2):93
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2دورية أكاديمية
المؤلفون: Mingrui Lin, Tengfei Shi, Wei Yan, Wenxu Chen, Xiaoyan Guo
المصدر: The Tohoku Journal of Experimental Medicine. 2017, 242(3):173
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المؤلفون: Xiaoyan, Guo, Shunyou, Chen, Mingrui, Lin, Yuancheng, Pan, Nannan, Liu, Tengfei, Shi
المصدر: Genetic testing and molecular biomarkers. 25(7)
مصطلحات موضوعية: Adult, Male, China, RNA Splicing, Mutation, Missense, Exons, N-Acetylglucosaminyltransferases, Introns, Pedigree, Phenotype, Asian People, Mutation, Humans, Female, RNA Splice Sites, Alleles, Exostoses, Multiple Hereditary
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::502e148b8f0c9f1c5713b97912bdcbe3Test
https://pubmed.ncbi.nlm.nih.gov/34280007Test -
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المؤلفون: Xiaoyan, Guo, Qinqin, Zheng, Mingrui, Lin, Yiyuan, Zhang, Tengfei, Shi
المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 38(6)
مصطلحات موضوعية: Heterozygote, Codon, Nonsense, Humans, Exons, Exostoses, Multiple Hereditary, Pedigree
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::85c3d5b72f681fc1d2324bd985abfdcdTest
https://pubmed.ncbi.nlm.nih.gov/34096023Test -
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المؤلفون: Tengfei Shi, Mingrui Lin, Yiyuan Zhang, Xiaoyan Guo
المصدر: The Tohoku Journal of Experimental Medicine. 249:93-100
مصطلحات موضوعية: Proband, Sanger sequencing, Genetics, Nonsense mutation, General Medicine, Biology, medicine.disease, General Biochemistry, Genetics and Molecular Biology, Synpolydactyly, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, HOXD13, 030220 oncology & carcinogenesis, embryonic structures, Mutation (genetic algorithm), medicine, symbols, 030212 general & internal medicine, Haploinsufficiency, Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::873eafd2a5ea6125cf804fcd860876ddTest
https://doi.org/10.1620/tjem.249.93Test -
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المؤلفون: Tengfei Shi, Mingrui Lin, Wei Yan, Wenxu Chen, Xiaoyan Guo
المصدر: The Tohoku Journal of Experimental Medicine. 242:173-181
مصطلحات موضوعية: 0301 basic medicine, Genetics, Sanger sequencing, Mutation, Genetic heterogeneity, Nonsense mutation, General Medicine, 030105 genetics & heredity, Biology, medicine.disease_cause, General Biochemistry, Genetics and Molecular Biology, DNA sequencing, 03 medical and health sciences, symbols.namesake, 030104 developmental biology, RNA splicing, medicine, symbols, Missense mutation, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3e626590e83b3a7213c88c53e4b72e78Test
https://doi.org/10.1620/tjem.242.173Test -
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المؤلفون: Mingrui Lin, Wei Yan, Wenxu Chen, Guolin Hong, Xiaoyan Guo
المصدر: International Journal of Oncology
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Cytoplasm, Cancer Research, RNA Splicing, Hereditary multiple exostoses, Gene Expression, Biology, N-Acetylglucosaminyltransferases, medicine.disease_cause, 03 medical and health sciences, Exon, exostosin glycosyltransferase 1 gene, 0302 clinical medicine, Gene expression, medicine, Humans, splice mutation, lentivirus infection, splice, Genetic Testing, RNA, Messenger, Genetic Association Studies, Aged, Cell Line, Transformed, Mutation, Splice site mutation, Articles, hereditary multiple exostoses, Middle Aged, medicine.disease, Molecular biology, Exon skipping, 030104 developmental biology, Oncology, 030220 oncology & carcinogenesis, RNA splicing, Female, RNA Splice Sites, Exostoses, Multiple Hereditary
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f77d0191b11aae3f15afa908f09b707Test
https://doi.org/10.3892/ijo.2019.4688Test -
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المؤلفون: Xiaoyan, Guo, Mingrui, Lin, Tengfei, Shi, Wei, Yan, Wenxu, Chen
المصدر: The Tohoku journal of experimental medicine. 242(3)
مصطلحات موضوعية: Male, Young Adult, Adolescent, Base Sequence, Child, Preschool, Mutation, High-Throughput Nucleotide Sequencing, Humans, Infant, Female, Child, N-Acetylglucosaminyltransferases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::f1b2575fb96f0e70e9939b1d83e1efecTest
https://pubmed.ncbi.nlm.nih.gov/28690282Test -
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المؤلفون: Xiaoyan, Guo, Wenxu, Chen, Mingrui, Lin, Tengfei, Shi, Dianhua, Huang, Zhihong, Wang
المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 34(3)
مصطلحات موضوعية: Adult, Male, Base Sequence, RNA Splicing, Molecular Sequence Data, Humans, Point Mutation, Female, RNA Splice Sites, Child, N-Acetylglucosaminyltransferases, Exostoses, Multiple Hereditary
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::263ebb3024decbd67c28aed959e88a46Test
https://pubmed.ncbi.nlm.nih.gov/28604967Test