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1دورية أكاديمية
المؤلفون: Yun Wang, Jiangtao Liu, Qingjiang Pang, Dongying Tao
المصدر: Biomedicine & Pharmacotherapy, Vol 177, Iss , Pp 117116- (2024)
مصطلحات موضوعية: Therapeutics. Pharmacology, RM1-950
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: DongYing Tao, HuiQin Zhang, Jingmin Yang, HuanHong Niu, JingJing Zhang, Minghua Zeng, ShengQuan Cheng
المصدر: Frontiers in Pediatrics, Vol 10 (2022)
مصطلحات موضوعية: pyruvate carboxylase deficiency, c.1825+5G>A, PC gene, splice-site variant, pathogenic variant, Pediatrics, RJ1-570
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Zhiliang Yang, Guilian Sun, Fang Yao, Dongying Tao, Binlu Zhu
المصدر: BMC Medical Genetics, Vol 18, Iss 1, Pp 1-5 (2017)
مصطلحات موضوعية: Hyperekplexia, Startle disease, GLRA1, Phenotype, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
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المؤلفون: Fang Yao, Guilian Sun, Zhiliang Yang, Binlu Zhu, Dongying Tao
المصدر: BMC Medical Genetics
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-5 (2017)مصطلحات موضوعية: 0301 basic medicine, Proband, Male, Candidate gene, lcsh:Internal medicine, China, lcsh:QH426-470, Adolescent, Case Report, Biology, medicine.disease_cause, Compound heterozygosity, GLRA1, 03 medical and health sciences, 0302 clinical medicine, Receptors, Glycine, Genetics, medicine, Missense mutation, Humans, Startle disease, Hyperekplexia, lcsh:RC31-1245, Glycine receptor, Genetics (clinical), Mutation, Hereditary hyperekplexia, Infant, Pedigree, lcsh:Genetics, 030104 developmental biology, Phenotype, Genetic Loci, Female, medicine.symptom, 030217 neurology & neurosurgery
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