基本信息
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Bio
(1)于2000年在国内最早开展了眼皮肤白化病致病基因突变研究,迄今在国际上首次确定了中国人存在眼皮肤白化病Ⅳ型(OCA4),在国际上首次开展并报道了OCA2产前基因诊断,目前致力于国人各型眼皮肤白化病基因分型研究和产前基因诊断实践及优生咨询。广东省科技厅和广州市科技局组织专家鉴定认为,完成的眼皮肤白化病(OCA)遗传异质性和产前基因诊断研究达到了国内领先和国际先进水平。(2)开展Prader-Willi/Angelman综合征的分子发病机制和优生学研究。在国内首次报道了经分子遗传诊断的Angelman综合征病例;首次建立了适于中国患者的Prader-Willi/Angelman综合征分子诊断方法;成功开展了国内首3例Prader-Willi综合征分子产前诊断,以上工作居全国领先水平。
Research Interests
Papers共 93 篇Author StatisticsCo-AuthorSimilar Experts
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Alternative therapies in health and medicine (2023)
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ALTERNATIVE THERAPIES IN HEALTH AND MEDICINEno. 7 (2023): 278-283
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Hongyi Li, Fei Zhu,Shufen Liao, Xiangjiang Wang,Yanlin Zhong,Xingzhao Wen,Xiaoyi Zhao,Weiming Liao,Zhiqi Zhang
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#Papers: 95
#Citation: 878
H-Index: 22
G-Index: 28
Sociability: 5
Diversity: 1
Activity: 0
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