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1دورية أكاديمية
المؤلفون: Lin Hu, Huanzheng Li, Guang Sun, Ke Wu, Zhaotang Luan, Yanbao Xiang, Shaohua Tang
المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 4, Pp n/a-n/a (2021)
مصطلحات موضوعية: beals syndrome, congenital contractural arachnodactyly, FBN2, prenatal diagnosis, whole‐exome sequencing, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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2
المؤلفون: Shaohua Tang, Lin Hu, Xueqin Xu, Huanzheng Li, Jinfang Lu, Yongliang Lou, Chenyang Xu, He Zhang, Zhaotang Luan, Zhengxiu Lin
المصدر: Journal of Clinical Laboratory Analysis
مصطلحات موضوعية: Microbiology (medical), Male, Arginine, nuclear accumulation, Clinical Biochemistry, Biology, symbols.namesake, Troponin T, Pregnancy, medicine, Immunology and Allergy, Missense mutation, Humans, Point Mutation, distal arthrogryposis, Cysteine, skeletal muscle, Child, Research Articles, Sanger sequencing, Arthrogryposis, Cell Nucleus, Protein Stability, Biochemistry (medical), Public Health, Environmental and Occupational Health, Skeletal muscle, Hematology, Molecular biology, Medical Laboratory Technology, medicine.anatomical_structure, HEK293 Cells, Amino Acid Substitution, Case-Control Studies, symbols, TNNT3, Female, Nucleus, Nuclear localization sequence, Research Article
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3
المؤلفون: Qian, Zhang, Huanzheng, Li, Chong, Chen, Zhaotang, Luan, Xueqin, Xu, Shaohua, Tang
المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 36(3)
مصطلحات موضوعية: Muscle Spasticity, Mutation, Humans, Spinocerebellar Ataxias, Female, Genes, Recessive, Heat-Shock Proteins
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::e96ce2176a456abc64e95e60cb5ae7d2
https://pubmed.ncbi.nlm.nih.gov/30835349 -
4
المؤلفون: Shaohua, Tang, Manli, Jia, Chong, Chen, Huanzheng, Li, Lin, Hu, Zhaotang, Luan, Xueqin, Xu, Jianxin, Lyu
المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 35(3)
مصطلحات موضوعية: Adult, Homeodomain Proteins, Male, China, Base Sequence, Molecular Sequence Data, Genetic Diseases, X-Linked, Pedigree, Young Adult, Phenotype, Asian People, Intellectual Disability, Mutation, Exome Sequencing, Humans, Point Mutation, Exome, Female, Transcription Factors
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::5a074eb6a61d23971f639b28cfe94c57
https://pubmed.ncbi.nlm.nih.gov/29896742 -
5
المؤلفون: Zhaotang, Luan, Huanzheng, Li, Lin, Hu, Chong, Chen, Xueqin, Xu, Yanbao, Xiang, Shaohua, Tang
المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 34(5)
مصطلحات موضوعية: Adult, Whole Genome Sequencing, Pregnancy, Prenatal Diagnosis, DNA Mutational Analysis, Mutation, Humans, Exome, Female, Familial Hypophosphatemic Rickets, PHEX Phosphate Regulating Neutral Endopeptidase, Microsatellite Repeats
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::ce3575ba9dcf9e0162c296ebc29472c9
https://pubmed.ncbi.nlm.nih.gov/28981921