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[期刊论文] 作者:LUO Shi-Qiang,ZHAO Li-Juan,HU Nan,ZHANG Ming,ZHANG Pan,WANG Ya-Zhou,YU Hua, 来源:中国物理快报(英文版) 年份:2011
[会议论文] 作者:YAN Ti-zhen,ZHONG Qing-yan,TANG Ning,WEI Shuo-feng,HUANG Qiu-ying,LUO Shi-qiang,LI Wu-gao,WANG Qiu-hua, 来源:2014全球华人遗传学大会暨全国第十三次医学遗传学学术会议 年份:2014
Objectives: To evaluate the clinical value of the multicolor melting curve analysis (MMCA) for gene mutation detection of G6PD deficiency.Methods: A total of 402 peripheral blood samples (256 males an...
[会议论文] 作者:Yan Tizhen,Zeng Ting,Wei Xiao-nin,Ding Yan-ling,Li Wugao,Li Zhetao,Weo Shuo-feng,Luo Shi-qiang,Cai Ren, 来源:第十四次全国医学遗传学学术会议 年份:2015
The interstitial deletions involving the 6p22-p24 chromosomal region are characterized by variable phenotype, according to the different size of the deleted regions and the small amount of patients re...
[会议论文] 作者:Huang Ji-wei,Tan Jian-qiang,Li Wugao,Li Zhe-tao,Yan Ti-zhen,Cai Ren,Pan Li-zhen,Luo Shi-qiang,Li Jing-wen, 来源:第十四次全国医学遗传学学术会议 年份:2015
Objective: To genetic analysis the CYP21A2 of seven patients with congenital adrenal hyperplasia and their parents.Methods: Seven patients with congenital adrenal hyperplasia from six families were co...
[会议论文] 作者:Yan Tizhen,Tan Jian-qiang,Tang Ning,Cai Ren,Zeng Dingyuan,Luo Shi-qiang,Ya Jiaolian,Pan Lizhen,Li Wugao, 来源:第十四次全国医学遗传学学术会议 年份:2015
Background: The human X chromosome carries regions prone to genomic instability:the Xq27.3 unstable region, containing the (CGG) n repeat expansion in the FMR1 gene is associated with fragile X syndro...
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