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孟珩

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(1) Heng Meng#, Hai-Qing Xu, Lu Yu, Guo-Wang Lin, Na He, Tao Su, Yi-Wu Shi, Xiao-Rong Liu, Bin Tang, Yue-Sheng Long, Yong-Hong Yi, and Wei-Ping Liao*. The SCN1A mutation database: updating information and analysis of the relationships among genotype, functional alteration, and phenotype. Human Mutation, 2015, 36(6): 573-580(2) 孟珩#,余璐,李斌,况耀鋆,徐安定,郑金瓯,廖卫平*。SCN1A基因突变导致部分性癫痫伴热性惊厥附加征的分子特性分析。癫痫杂志,2015,1(2):101-105.(3) 张美品#,孟珩#,何娜,高曲文,秦兵,陈勇军,石奕武,陈亮,易咏红,廖卫平,黎冰梅*。热性惊厥附加症伴孤独症与临床及SCN1A基因突变的相关性分析。实用医学杂志,2014,30(05):729-731。 (4) Heng Meng#, Bin Tang, Yong-Hong Yi, and Wei-Ping Liao*. Splice-site Mutations in SCN1A Cause Epilepsies with Febrile Seizures: Mechanisms and Correlations with Clinical Severity. Epilepsia. 2013, 54(Suppl.3): 192.(5) Liu XR, Wu M, He N, Heng Meng,Wen L, Wang JL, Zhang MP, Li WB, Mao X, Qin JM, Li BM, Tang B, Deng YH, Shi YW, Su T, Yi YH, Tang BS, Wei-Ping Liao*. Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes. Genes Brain Behav. 2013 Mar;12(2):234-40.(6) Shi YW, Yu MJ, Long YS, Qin B, He N, Heng Meng, Liu XR, Deng WY, Gao MM, Yi YH, Li BM, Wei-Ping Liao*. Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures. Genes Brain Behav. 2012 Mar;11(2):170-6.

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