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Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis 期刊论文
SCIENCE CHINA-LIFE SCIENCES, 2018, 卷号: 61, 期号: 8, 页码: 947-953
作者:  Wang Rongrong;  Yang Shuanghao;  Xu Ming;  Huang Jia;  Liu Hongyan;  Gu Weiyue;  Zhang Xue
收藏  |  浏览/下载：142/0  |  提交时间：2021/02/02
RED-CELL MEMBRANE  HEMATOLOGICALLY IMPORTANT MUTATIONS  RENAL TUBULAR-ACIDOSIS  HEMOLYTIC-ANEMIA  BETA-SPECTRIN  CYTOPLASMIC DOMAIN  BAND-3 DEFICIENCY  DISORDERS  ANKYRIN  VARIANTS  hereditary spherocytosis  mutation  ANK1  SPTB  SLC4A1  whole-exome sequencing  
Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis 期刊论文
SCIENCE CHINA-LIFE SCIENCES, 2018, 卷号: 61, 期号: 8, 页码: 947-953
作者:  Wang Rongrong;  Yang Shuanghao;  Xu Ming;  Huang Jia;  Liu Hongyan;  Gu Weiyue;  Zhang Xue
收藏  |  浏览/下载：138/0  |  提交时间：2021/02/02
RED-CELL MEMBRANE  HEMATOLOGICALLY IMPORTANT MUTATIONS  RENAL TUBULAR-ACIDOSIS  HEMOLYTIC-ANEMIA  BETA-SPECTRIN  CYTOPLASMIC DOMAIN  BAND-3 DEFICIENCY  DISORDERS  ANKYRIN  VARIANTS  hereditary spherocytosis  mutation  ANK1  SPTB  SLC4A1  whole-exome sequencing  
Identification of hydrazone moiety-bearing aminopyrimidines as potent antitumor agents with selective inhibition of gefitinib-resistant H1975 cancer cells 期刊论文
CHINESE CHEMICAL LETTERS, 2017, 卷号: 28, 期号: 5, 页码: 991-994
作者:  Qin MingZe;  Wang Lei;  Yan Shuang;  Ma JunJie;  Tian Ye;  Zhao YanFang;  Gong Ping
收藏  |  浏览/下载：154/0  |  提交时间：2021/02/02
TYROSINE KINASE INHIBITOR  LUNG-CANCER  RECEPTOR  T790M  MUTANT  MUTATION  Aminopyrimidines  EGFR T790M/L858R  Selectivity  Anti-resistance  Antiproliferative activity  
Identification of hydrazone moiety-bearing aminopyrimidines as potent antitumor agents with selective inhibition of gefitinib-resistant H1975 cancer cells 期刊论文
CHINESE CHEMICAL LETTERS, 2017, 卷号: 28, 期号: 5, 页码: 991-994
作者:  Qin MingZe;  Wang Lei;  Yan Shuang;  Ma JunJie;  Tian Ye;  Zhao YanFang;  Gong Ping
收藏  |  浏览/下载：135/0  |  提交时间：2021/02/02
TYROSINE KINASE INHIBITOR  LUNG-CANCER  RECEPTOR  T790M  MUTANT  MUTATION  Aminopyrimidines  EGFR T790M/L858R  Selectivity  Anti-resistance  Antiproliferative activity  
Whole-genome sequencing of monozygotic twins discordant for schizophrenia indicates multiple genetic risk factors for schizophrenia 期刊论文
JOURNAL OF GENETICS AND GENOMICS, 2017, 卷号: 44, 期号: 6, 页码: 295-306
作者:  Tang Jinsong;  Fan Yu;  Li Hong;  Xiang Qun;  Zhang DengFeng;  Li Zongchang;  He Ying;  Liao Yanhui;  Wang Ya;  He Fan;  Zhang Fengyu;  Shugart Yin Yao;  Liu Chunyu;  Tang Yanqing;  Chan Raymond C K;  Wang ChuanYue;  Yao YongGang;  Chen Xiaogang
收藏  |  浏览/下载：167/0  |  提交时间：2021/02/02
DE-NOVO MUTATIONS  STRUCTURAL VARIANT DISCOVERY  WIDE ASSOCIATION  PSYCHIATRIC-DISORDERS  SYNAPTIC PLASTICITY  BIPOLAR DISORDER  PROTEIN FUNCTION  COMPLEX TRAITS  MESSENGER-RNA  HUMAN-DISEASE  Whole-genome sequencing  Schizophrenia  Monozygotic twin  De novo mutation  Combined effect  Susceptibility  
Novel ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis 期刊论文
WORLD JOURNAL OF GASTROENTEROLOGY, 2012, 卷号: 18, 期号: 44, 页码: 6504-6509
作者:  Deng BaoCheng;  Lv Sa;  Cui Wei;  Zhao Rui;  Lu Xu;  Wu Jian;  Liu Pei
收藏  |  浏览/下载：93/0  |  提交时间：2021/02/02
FARNESOID-X-RECEPTOR  HEPATOCELLULAR-CARCINOMA  HEREDITARY CHOLESTASIS  ABCB11  TYPE-1  PFIC2  ATP8B1  Bile salt export pump  Novel mutation  Progressive familial intrahepatic cholestasis type 1  Intermittent cholestasis  
Coexistence of a c-kit negative gastrointestinal stromal tumor and a gastric mucinous adenocarcinoma 期刊论文
CHINESE MEDICAL JOURNAL, 2010, 卷号: 123, 期号: 24, 页码: 3728-3730
作者:  Zhang Hao;  Zhang Shuilong;  Xu Huimian
收藏  |  浏览/下载：92/0  |  提交时间：2021/02/02
MUTATIONS  DIAGNOSIS  GISTS  gastrointestinal stromal tumor  gastric adenocarcinoma  c-kit  platelet-derived growth factor receptor alpha  mutation