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检索条件"任意字段=中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会"
543 条 记 录,以下是431-440 订阅
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Development of Bead-Based Suspension Array Technology for the Diagnosis of Hereditary Hearing Loss
Development of Bead-Based Suspension Array Technology for th...
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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会
作者: Liu Chang Zhang Liang Zhang Yan Ding Hongke Zhou Weiping Feng Defeng Zeng Yukun Liu Ling Yin Aihua Medical Genetic Centre Guangdong Women and Children Hospital Maternal and Children Metabolic-Genetic Key Laboratory Guangdong Women and Children Hospital
Objective Hearing loss is one of the most common birth defects and one of the most prevalent se nsorineural disorders. Given that hereditary hearing impairment exhibits incredible genetic hetero geneity, effective dia... 详细信息
来源: 评论
Non-Invasive Pre-Implantation Aneuploidy Screening and Diagnosis of Beta Thalassemia IVSⅡ654 Mutation using Spent Embryo Culture Medium
Non-Invasive Pre-Implantation Aneuploidy Screening and Diagn...
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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会
作者: Liu Weiqiang Liu Jian Qiao Du Hong Zi Ling Jia Wei Sun Xiao Fang Chen Dun Jin Third affiliated hospital of guangzhou medical university
Objective Cell-free nuclear DNA has been isolated from spent embryo culture medium. Whether these small amount of DNA can be amplified at the whole genome level and the concordance rate of karyotypes and specific alle... 详细信息
来源: 评论
DNA methylation mediates genotype and smoking interaction in the development of anti-citrullinated peptide antibody-positive rheumatoid arthritis
DNA methylation mediates genotype and smoking interaction in...
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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会
作者: Liu Yun 复旦大学基础医学院
Objective Rheumatoid arthritis(RA) is a chronic autoimmune disease that leads to inflammation of the joints and surrounding tissues. Multiple factors, including interactions between genetic andenvironmental risks, are... 详细信息
来源: 评论
PKLR polymorphism and gastric cancer risk
PKLR polymorphism and gastric cancer risk
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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会
作者: Bi Yan Zhang Sheng-jian Zhao Wan Yu Tao Li Xingwang He Lin Qiu Li-xin He Guang Bio-X Institutes Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education) Shanghai Jiao Tong University Shanghai Key Laboratory of Psychotic Disorders Shanghai Institute of Mental Health Shanghai Jiao Tong University Fudan University Shanghai Cancer Center Department of Oncology Shanghai Medical College Fudan University Department of Oncology Suzhou Science & Technology Town Hospital Institutes of Biomedical Sciences Fudan University Institute for Nutritional Sciences Shanghai Institutes of Biological Sciences Chinese Academy of Sciences Cancer Institute Collaborative Innovation Center for Cancer Medicine Fudan University Shanghai Cancer Center
Objective Gastric cancer(GCa) is a leading cause of cancer-related death with high incidence worldwide, particularly in China. There have been some genes found to be involved in the initiation and progression of GCa a... 详细信息
来源: 评论
Association study of GRM7 polymorphisms with major depressive disorder in the Chinese Han population
Association study of GRM7 polymorphisms with major depressiv...
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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会
作者: Niu Weibo Huang Xiaoye Chen Shiqing Li Xingwang Wu Xi Cao Yanfei Zhang Rui Bi Yan Yang Fengping Wang Lu Li Weidong Xu Yifeng He Lin Yu Tao He Guang Bio-X Institutes Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education) Shanghai Jiao Tong University Institute for Nutritional Sciences Shanghai Institutes of Biological Sciences Chinese Academy of Sciences Shanghai Key Laboratory of Psychotic Disorders Shanghai Institute of Mental Health Shanghai Jiao Tong University Institutes of Biomedical Sciences Fudan University
Objective Major depressive disorder(MDD) is a severe and polygenic psychiatric disorder with hi gh heritability. There is an evidence that metabotropic glutamate receptor 7(GRM7) is associate d with schizophrenia, bip... 详细信息
来源: 评论
A Novel Homozygous Missense Mutation and A Compound Heterozygous Frameshift Mutations of PDZD7 Gene Identified in Two Chinese Families with Nonsyndromic Hearing Loss.
A Novel Homozygous Missense Mutation and A Compound Heterozy...
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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会
作者: Guan Jing Wang Dayong Wang Hongyang Xie Linyi Yang Ju Zhao Cui Lan Lan Yin Zifang Wang Qiuju Department of Otolaryngology-Head and Neck Surgery Chinese PLA Institute of Otolaryngology Chinese PL A General Hospital
Objective To investigate the genetic etiology of two non-consanguineous Chinese families with a utosomal recessive non-syndromic hearing loss(ARNSHL). Method Two Chinese ARNSHL families with two affected siblings were... 详细信息
来源: 评论
Molecular analysis of 12 Pakistani families with non-syndromic or syndromic hearing loss
Molecular analysis of 12 Pakistani families with non-syndrom...
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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会
作者: Wang Rongrong Han Shirui Khan Amjad Zhang Xue Institute of Basic Medical Sciences Chinese Academy of Medical Sciences School of Basic Medicine Peking Union Medical College China Medical University
Objective To investigate the causative genetic mutations in 12 Pakistani families with non-syndro mic or syndromic hearing loss Method Mutations in the commonest causative gene GJB2 were pre-excluded by Sanger sequen ... 详细信息
来源: 评论
Alternatively spliced products lacking exon 12 dominate the expression of fragile X mental retardation 1 gene in human tissues
Alternatively spliced products lacking exon 12 dominate the ...
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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会
作者: Fu Xianguo Department of Medical Genetics Fuzhou General Hospital
Objective Fragile X mental retardation 1 gene(FMR1) expression is associated with fragile X syn drome(FXS) and exhibits several splicing products. However, the proportion of spliced isoforms t hat are expressed in dif... 详细信息
来源: 评论
Effects of G6PD activity inhibition on the mechanical properties and cytoskeletons of cervical cancer cells
Effects of G6PD activity inhibition on the mechanical proper...
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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会
作者: Fang ZiShui Jiang ChengRui Feng Yi Chen RiXin Lin XiaoYing Zhang ZhiQiang Han LuHao Chen XiaoDan Li HongYi Guo YiBin Jiang WeiYing Sun Yat-sen University
Objective Glucose-6-phosphate dehydrogenase(G6 PD) deficiency has been revealed to be involved in the efficacy to anti-cancer therapy but the mechanism remains unclear. In our previous study, we haveobserved increased... 详细信息
来源: 评论
A novel insertion mutation in the ATP7A gene associated with delayed infantile onset of Menkes disease
A novel insertion mutation in the ATP7A gene associated with...
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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会
作者: Li Wugao Yan Tizhen Tang Ning Li Zhetao Huang Jiwei Tan Jianqiang Pan Lizhen Cai Ren Key Laboratory of birth defects prevention and control Department of Medical Genetics Liuzhou Municipal Maternity and Child Healthcare Hospital
Objective Determining the relationship between clinical phenotype and genotype in genetic disea ses is important in clinical practice. In general, frameshift mutations are expected to produce pre mature termination co... 详细信息
来源: 评论