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1دورية أكاديمية
المؤلفون: Qinlong Zeng, Yingsong Yang, Jiahong Luo, Jinmei Xu, Choufen Deng, Yuanjuan Yang, Shuming Tan, Shuxiang Sun, Yuping Li, Tong Ou
المصدر: Frontiers in Pediatrics, Vol 9 (2021)
مصطلحات موضوعية: citrin deficiency, SLC25A13, multicolor melting curve analysis, rapid genetic diagnosis, newborn screening, Pediatrics, RJ1-570
وصف الملف: electronic resource
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المؤلفون: Hui Li, Jieliang Tan, Ning Li, Qinlong Zeng, Yan Hong, Li Yuping, Qing Li, Songbai Wang, Wei Ma, Chenglong Zhou, Liangping Luo, Sun Tielan, Jia Tang, Haihong Shi, Yuying Mo, Weilan Tan, Jinling Zhu
المصدر: Clinica Chimica Acta. 507:187-193
مصطلحات موضوعية: Adult, 0301 basic medicine, Proband, China, Pathology, medicine.medical_specialty, Genetic counseling, Clinical Biochemistry, Prenatal diagnosis, Osteochondrodysplasias, Biochemistry, Umbilical cord, Young Adult, 03 medical and health sciences, symbols.namesake, Fetus, 0302 clinical medicine, Prenatal Diagnosis, Exome Sequencing, medicine, Humans, Copy-number variation, Exome sequencing, Sanger sequencing, business.industry, Biochemistry (medical), General Medicine, 030104 developmental biology, medicine.anatomical_structure, Ultrasonic Waves, 030220 oncology & carcinogenesis, symbols, Female, business
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المؤلفون: Shuxiang Sun, Tong Ou, Yuping Li, Shuming Tan, Choufen Deng, Yuanjuan Yang, Qinlong Zeng, Yingsong Yang, Jiahong Luo, Jinmei Xu
المصدر: Frontiers in Pediatrics, Vol 9 (2021)
Frontiers in Pediatricsمصطلحات موضوعية: 0301 basic medicine, rapid genetic diagnosis, SLC25A13, Concordance, Citrin deficiency, Pediatrics, RJ1-570, Melting curve analysis, 03 medical and health sciences, 0302 clinical medicine, Genotype, Medicine, citrin deficiency, multicolor melting curve analysis, Original Research, Genetics, Newborn screening, newborn screening, business.industry, 030104 developmental biology, Pediatrics, Perinatology and Child Health, Human genome, Ploidy, Genetic diagnosis, business, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ba5a0907fdceff6c1c812df4389fd71
https://doi.org/10.3389/fped.2021.654527 -
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المؤلفون: Yuping Li, Chenglong Zhou, Yangran Chen, Haihong shi, Qiang Chen, Ning Li, Qinlong Zeng, Yan Hong, Qing Li, Choufen Deng, Feng Zhou, Jieliang Tan, Mei Yang, Qiuli Li, Yingsong Yang, Jianjiang Feng, Shuxiang Sun, Ziqian Tang, Liangping Luo, Jia Tang
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0c4a9138b4340cab7b846d83c48c2e3a
https://doi.org/10.21203/rs.3.rs-136131/v1 -
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المؤلفون: Chenglong Zhou, Qinlong Zeng, Feng Zhou, Jia Tang, Jieliang Tan, Yuping Li, Yangran Chen, Liangping Luo, Qing Li, Mei Yang, Qiuli Li, Ziqian Tang, Yingsong Yang, Choufen Deng, Yan Hong, Jianjiang Feng, Haihong Shi, Qiang Chen, Shuxiang Sun, Ning Li
مصطلحات موضوعية: Genetics, business.industry, Medicine, Missense mutation, Prenatal diagnosis, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d097d2c17ff1a91935a2e97bb1d18a6d
https://doi.org/10.21203/rs.3.rs-127028/v1 -
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المؤلفون: Jieliang Tan, Yangran Chen, Wei Ma, Liangping Luo, Victor W Zhang, Jing Wang, Qinlong Zeng, Qing Li, Hongqing Jiang, Runze Jiang, Hui Tang, Jia Tang
المصدر: Journal of Clinical Laboratory Analysis
مصطلحات موضوعية: 0301 basic medicine, Microbiology (medical), Male, new clinical symptoms, RNA Splicing, Clinical Biochemistry, Muscle Proteins, Muscle disorder, Protein Serine-Threonine Kinases, Bioinformatics, centronuclear myopathy, 03 medical and health sciences, 0302 clinical medicine, Asian People, Pregnancy, medicine, Diseases in Twins, Immunology and Allergy, Humans, Centronuclear myopathy, Exome sequencing, Genetic Association Studies, Research Articles, Arthrogryposis, Genetic heterogeneity, business.industry, Biochemistry (medical), Homozygote, Public Health, Environmental and Occupational Health, Facial weakness, Infant, Newborn, Hematology, medicine.disease, Congenital myopathy, Hypotonia, novel variant, SPEG, Medical Laboratory Technology, 030104 developmental biology, 030220 oncology & carcinogenesis, Mutation, Female, medicine.symptom, business, Myopathies, Structural, Congenital, Research Article, medical exome sequencing
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المؤلفون: Jia Tang, Qinlong Zeng, Wei Ma, Jieliang Tan, Liangping Luo, Cao Keshen
المصدر: Disease Markers, Vol 2019 (2019)
Disease Markersمصطلحات موضوعية: 0301 basic medicine, Oncology, medicine.medical_specialty, Article Subject, Clinical Biochemistry, Breast Neoplasms, Kaplan-Meier Estimate, Disease-Free Survival, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Text mining, Internal medicine, microRNA, Biomarkers, Tumor, Genetics, medicine, Humans, Gene Regulatory Networks, Prognostic biomarker, Prospective Studies, Prospective cohort study, Molecular Biology, lcsh:R5-920, Receiver operating characteristic, business.industry, Proportional hazards model, Gene Expression Profiling, Biochemistry (medical), Univariate, General Medicine, Prognosis, medicine.disease, Gene Expression Regulation, Neoplastic, body regions, MicroRNAs, 030104 developmental biology, ROC Curve, 030220 oncology & carcinogenesis, embryonic structures, Female, business, lcsh:Medicine (General), Research Article
وصف الملف: text/xhtml
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المؤلفون: Qiao Lyu, Qinlong Zeng, Longzhou Xiao, Xinping Long, Zhihuai Xiao
المصدر: Journal of Mechanical Science and Technology. 30:585-592
مصطلحات موضوعية: Engineering, Jet (fluid), business.industry, 020209 energy, Mechanical Engineering, Design of experiments, Mechanical engineering, Fluid mechanics, Ranging, 02 engineering and technology, Computational fluid dynamics, 020303 mechanical engineering & transports, 0203 mechanical engineering, Flight envelope, Mechanics of Materials, Line (geometry), 0202 electrical engineering, electronic engineering, information engineering, business, Envelope (mathematics)