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JournalTitleSearch:(Chinese Journal of Medical Genetics)

1.Analysis of genetic mutations and pathogenesis for two children with Omenn syndrome.

Yongbin XU ; Yubing CHEN ; Huishan CHEN ; Huasong ZENG

Chinese Journal of Medical Genetics 2016;33(1):38-43

2.Identification of a novel mutation of DSPP gene in a Chinese family affected with dentinogenesis imperfecta shields type II.

Yanshan LIU ; Yingzhi HUANG ; Jinsong GAO ; Shan LI ; Xiuli ZHAO ; Xue ZHANG

Chinese Journal of Medical Genetics 2016;33(1):34-37

3.Mutation analysis of 35 Wilson's disease pedigrees.

Yanan ZONG ; Xiangdong KONG

Chinese Journal of Medical Genetics 2016;33(1):30-33

4.Molecular epidemiology of G6PD deficiency in Chaozhou area of eastern Guangdong Province.

Fen LIN ; Jiaoren WU ; Hui YANG ; Min LIN ; Liye YANG

Chinese Journal of Medical Genetics 2016;33(1):26-29

5.Calibration of false positive result in detection of BCR/ABL using fluorescence in situ hybridization.

Qinghua DU ; Qingshan LI ; Xiaoyan CHEN ; Yi YING ; Shunqing WANG

Chinese Journal of Medical Genetics 2016;33(1):22-25

6.Study of in vitro expression of human platelet ITGB3 gene nonsense mutation c.1476G>A.

Ying LIU ; Xianguo XU ; Shu CHEN ; Xiaozhen HONG ; Sudan TAO ; Ji HE ; Faming ZHU ; Hangjun LYU

Chinese Journal of Medical Genetics 2016;33(1):17-21

7.Clinical significance of detecting t(11;14) by fluorescence in situ hybridization for the diagnosis of 7 patients with atypical mantle cell lymphoma.

Jianfeng ZHU ; Zhengdong WU ; Lei FAN ; Wei XU ; Jianyong LI

Chinese Journal of Medical Genetics 2016;33(1):13-16

8.Application of eight-probe fluorescence in situ hybridization and R-banding karyotype analysis for the diagnosis of acute lymphoblastic leukemia.

Ding ZHAO ; Shuai LIU ; Zhenxin GUO ; Rui LI

Chinese Journal of Medical Genetics 2016;33(1):9-12

9.Application of fluorescent in situ hybridization in primary diagnosis of aplastic anemia by morphology.

Xiaolan LIN ; Wanzi CHEN ; Qiang FU ; Jiadi CHEN ; Huifang HUANG

Chinese Journal of Medical Genetics 2016;33(1):5-8

10.Preimplantation genetic diagnosis for carriers of thalassemia and chromosomal abnormality.

Jing WANG ; Chenhui DING ; Yongming ZHANG ; Zhimin ZENG ; Xuerong HOU ; Baomin LU ; Yanwen XU ; Canquan ZHOU

Chinese Journal of Medical Genetics 2016;33(1):1-4

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