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1دورية أكاديمية
المؤلفون: Na He, Bao‐Zhu Guan, Jie Wang, Han‐Kui Liu, Yong Mao, Zhi‐Gang Liu, Fei Yin, Jing Peng, Bo Xiao, Bei‐sha Tang, Dong Zhou, Guang Huang, Qi‐Lin Dai, Ying Zeng, Hong Han, Qiong‐Xiang Zhai, Bin Li, Bin Tang, Wen‐Bin Li, Wang Song, Liu Liu, Yi‐Wu Shi, Bing‐Mei Li, Tao Su, Peng Zhou, Xiao‐Rong Liu, Li‐Wu Guo, Yong‐Hong Yi, Wei‐Ping Liao
المصدر: Clinical and Translational Medicine, Vol 13, Iss 6, Pp n/a-n/a (2023)
مصطلحات موضوعية: cobalamin metabolism disorders, HCFC1 variant, molecular sub‐regional effect, partial epilepsy, proteolysis dysfunction, Medicine (General), R5-920
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2001-1326
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2
المؤلفون: Zheng, Chen, Sheng, Luo, Zhi-Gang, Liu, Yan-Chun, Deng, Su-Li, He, Xiao-Rong, Liu, Yong-Hong, Yi, Jie, Wang, Liang-Di, Gao, Bing-Mei, Li, Zhi-Jun, Wu, Zi-Long, Ye, De-Hai, Liang, Wen-Jun, Bian, Wei-Ping, Liao
المصدر: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 189:247-256
مصطلحات موضوعية: Heterozygote, Cellular and Molecular Neuroscience, Psychiatry and Mental health, Mutation, Missense, Humans, Epilepsies, Partial, Cadherins, Alleles, Genetics (clinical)
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3
المؤلفون: Jia, Li, Si-Mei, Lin, Jing-Da, Qiao, Xiao-Rong, Liu, Jie, Wang, Mi, Jiang, Jing, Zhang, Min, Zhong, Xu-Qin, Chen, Jing, Zhu, Na, He, Tao, Su, Yi-Wu, Shi, Yong-Hong, Yi, Wei-Ping, Liao
المصدر: CNS Neuroscience & Therapeutics. 28:382-389
مصطلحات موضوعية: Male, Pharmacology, Epilepsy, Mutation, Missense, Receptors, Cell Surface, Cadherins, Seizures, Febrile, Psychiatry and Mental health, Physiology (medical), Mutation, Exome Sequencing, Humans, Female, Pharmacology (medical)
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4
المؤلفون: Hailing Liu, De-Tian Liu, Song Lan, Bing-Mei Li, Meng Xu, Yong-Hong Yi, Xiao-Rong Liu
المصدر: Basic & Clinical Pharmacology & Toxicology. 128:348-351
مصطلحات موضوعية: Male, Pharmacology, medicine.medical_specialty, Adolescent, business.industry, Lymphadenopathy, Oxcarbazepine, General Medicine, Carbamazepine, Toxicology, Gastroenterology, HLA-B, HLA-B Antigens, Cervical lymphadenopathy, Stevens-Johnson Syndrome, Internal medicine, medicine, Humans, Anticonvulsants, medicine.symptom, Allele, business, medicine.drug
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5
المؤلفون: Na He, J.-M. Qin, M. Wu, X. Mao, Beisha Tang, Tao Su, M.-P. Zhang, Yi-Wu Shi, Xiao Rong Liu, Bing-Mei Li, W.-B. Li, H. Meng, L. Wen, J.-L. Wang, Yong-Hong Yi, Bin Tang, Wei-Ping Liao, Y.-H. Deng
المصدر: Genes, Brain and Behavior. 12:234-240
مصطلحات موضوعية: Genetics, Mutation, business.industry, Paroxysmal dyskinesia, medicine.disease, Compound heterozygosity, medicine.disease_cause, Penetrance, Behavioral Neuroscience, Epilepsy, Neurology, medicine, Missense mutation, Inheritance Patterns, business, PRRT2
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6
المؤلفون: H. Meng, Mei-Juan Yu, Mei-Mei Gao, Na He, B. Qin, Wei-Ping Liao, Bing-Mei Li, Yi-Wu Shi, Yong-Hong Yi, Yue-Sheng Long, Xiao Rong Liu, Wei-Yi Deng
المصدر: Genes, Brain and Behavior. 11:170-176
مصطلحات موضوعية: Male, Proband, Genotype, Mutation, Missense, Nerve Tissue Proteins, Germline mosaicism, Biology, medicine.disease_cause, Seizures, Febrile, Sodium Channels, Young Adult, Behavioral Neuroscience, Epilepsy, Dravet syndrome, Genetics, medicine, Humans, Missense mutation, Child, Mutation, Mosaicism, medicine.disease, Pedigree, NAV1.1 Voltage-Gated Sodium Channel, Phenotype, Neurology, Female, Epilepsies, Partial, Generalized epilepsy with febrile seizures plus
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7
المؤلفون: Xiao Rong Liu, Wei Yi Deng, Tian Li, Zhi Gang Lei, Shumin Duan, Shu Jun Xu, Yi Wu Shi, Yue Sheng Long, Yong Hong Yi, Tao Su, Weiwen Sun, Yang Zeng, Mei Juan Yu, Ping Deng, Zao C. Xu, Wei-Ping Liao
المصدر: Epilepsia. 51:1669-1678
مصطلحات موضوعية: business.industry, medicine.medical_treatment, Pharmacology, Gene mutation, medicine.disease, Epilepsy, Anticonvulsant, Neurology, SCN1B, Anesthesia, medicine, Myoclonic epilepsy, Neurology (clinical), Generalized epilepsy, business, Generalized epilepsy with febrile seizures plus, Familial hemiplegic migraine
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8
المؤلفون: L.-M. Yan, Na He, Q.-X. Zhai, Bing-Mei Li, Jing Wang, Wei-Ping Liao, J.-W. Zhang, Peng Zhou, Zhi-Jian Lin, Heng Meng, Yi-Wu Shi, Bo Tang, Yong-Hong Yi, Xiao Rong Liu
المصدر: Genes, Brain and Behavior. 17:e12456
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Candidate gene, Potassium Channels, Adolescent, Concordance, Population, Epilepsies, Myoclonic, Nerve Tissue Proteins, Potassium Channels, Sodium-Activated, Young Adult, 03 medical and health sciences, Behavioral Neuroscience, Epilepsy, 0302 clinical medicine, Dravet syndrome, Chloride Channels, Genetics, Humans, KCNQ2 Potassium Channel, Medicine, Child, education, Genetic Association Studies, education.field_of_study, NAV1.2 Voltage-Gated Sodium Channel, business.industry, High-Throughput Nucleotide Sequencing, Infant, medicine.disease, NAV1.1 Voltage-Gated Sodium Channel, Phenotype, 030104 developmental biology, medicine.anatomical_structure, Neurology, CHD2, Child, Preschool, Mutation, Medical genetics, Female, TSC1, business, Epileptic Syndromes, Spasms, Infantile, 030217 neurology & neurosurgery
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9
المؤلفون: Yang-Lin Cai, Hao-hui Chang, Tao Su, Yang Zeng, Wei-Ping Liao, Yi-Wu Shi, Yue-Sheng Long, Yong-Hong Yi, Qi-Hua Zhao
المصدر: Journal of Neuroscience Research. 86:3375-3381
مصطلحات موضوعية: Regulation of gene expression, Base Sequence, Molecular Sequence Data, Brain, Gene Expression, Nerve Tissue Proteins, Promoter, Exons, Biology, Molecular biology, Sodium Channels, Cell Line, NAV1.1 Voltage-Gated Sodium Channel, Cellular and Molecular Neuroscience, Exon, Gene Expression Regulation, Gene expression, NAV1, Transcriptional regulation, Humans, Luciferase, 5' Untranslated Regions, Promoter Regions, Genetic, Gene