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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  
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  
Lack of association between three single nucleotide polymorphisms in the PARK9, PARK15, and BST1 genes and Parkinson's disease in the northern Han Chinese population 期刊论文
CHINESE MEDICAL JOURNAL, 2012, 卷号: 125, 期号: 4, 页码: 588-592
作者:  Zhu Lanhui;  Luo Xiaoguang;  Zhou Yishu;  Li Fengrui;  Yang Yichun;  Ren Yan;  Pang Hao
收藏  |  浏览/下载：108/0  |  提交时间：2021/02/26
GENOME-WIDE ASSOCIATION  P-TYPE ATPASE  PYRAMIDAL SYNDROME  ATP13A2  MUTATIONS  VARIANTS  FBXO7  LOCI  Parkinson disease  PARK9  PARK15  BST1  genetic association studies  
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  
Functional implications of C-terminus of TBX5 with high homology to C-terminal domain of yeast DNA-directed RNA polymerase II largest subunit 期刊论文
CHINESE MEDICAL JOURNAL, 2008, 卷号: 121, 期号: 8, 页码: 762-765
作者:  Zhou Zhuren;  Gong Liguo;  Geng Wenqing;  Qiu Guangrong;  Sun Kailai
收藏  |  浏览/下载：98/0  |  提交时间：2021/02/02
HOLT-ORAM-SYNDROME  WW DOMAIN  PHOSPHORYLATION  PREDICTION  MUTATIONS  SERVER  TBX5  Holt-Oram syndrome  computational biology  RNA polymerase II