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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、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441-450 订阅
排序:
Genetic and clinical findings in a Chinese family with PROM1-associated Stargardt disease: Case report and review of the literature
Genetic and clinical findings in a Chinese family with PROM1...
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中华医学会第十五全国医学遗传学学术会议中国医师协会医学遗传医师分会第一届全国学术会议2016浙江省医学遗传学年会
作者: Huang Li Xiao Xueshan Li Shiqiang Jia Xiaoyun Wang Panfeng Sun Wenmin Guo Xiangming Zhang Qingjiong 中山大学中山眼科中心眼科学国家重点实验室
Objective Stargardt disease(STGD) is the most common form of inherited juvenile macular dege neration. In this study, we try to explore the molecular genetics of STGD in a Chinese family and t o broaden the knowledge ... 详细信息
来源: 评论
Identification and Clinical Implications of Novel MYO15A Mutations in a Non-consanguineous Chinese Family by Targeted Exome Sequencing
Identification and Clinical Implications of Novel MYO15A Mut...
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中华医学会第十五全国医学遗传学学术会议中国医师协会医学遗传医师分会第一届全国学术会议2016浙江省医学遗传学年会
作者: Yan Tizhen Tang Ning Li Zhetao Li Wugao Tang Xiangrong Wang Lin Yang Yan Huang Jiwei Zheng Pei Cai Ren Zeng Dingyuan Key Laboratory of birth defects prevention and control Department of Medical Genetics Liuzhou Municipal Maternity and Child Healthcare Hospital Center of Hearing Liuzhou Municipal Maternity and Child Healthcare Hospital
Objective Autosomal recessive nonsyndromic hearing loss(ARNSHL) is a genetically heterogen eous sensorineural disorder, generally manifested with prelingual hearing loss and absence of ot her clinical manifestations. ... 详细信息
来源: 评论
Whole-exome sequencing identifies two novel MARVELD2 frame-shift mutations as a cause of autosomal recessive nonsyndromic hearing loss in a Chinese family
Whole-exome sequencing identifies two novel MARVELD2 frame-s...
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中华医学会第十五全国医学遗传学学术会议中国医师协会医学遗传医师分会第一届全国学术会议2016浙江省医学遗传学年会
作者: Yan Tizhen Cai Ren Tang Ning Li Wugao Li Zhetao Tang Xiangrong Luo Shiqiang Yang Yan Li Jingwen Wang Lin Zeng Dingyuan Key Laboratory of birth defects prevention and control Department of Medical Genetics Liuzhou Municipal Maternity and Child Healthcare Hospital Center of Hearing Liuzhou Municipal Maternity and Child Healthcare Hospital
Objective The genetic heterogeneity of hearing loss makes genetic diagnosis expensive and tim e consuming using available methods. Whole-exome sequencing has recently been introduced a s an alternative approach to ide... 详细信息
来源: 评论
The Correlation between G6PD Deficiency and Malaria Infection Rates: Meta-analysis Study
The Correlation between G6PD Deficiency and Malaria Infectio...
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中华医学会第十五全国医学遗传学学术会议中国医师协会医学遗传医师分会第一届全国学术会议2016浙江省医学遗传学年会
作者: Chen Xiao dan Zhang Zhi qiang Jiang Wei ying Liu Li Guangzhou women and children's medical center Department of Medical Genetics Zhongshan Medical College Sun Yat-Sen University
Objective The aim of the present study was to perform a meta-analysis to investigate whether G6 PD-deficiency decreases the risk of malaria infection. Method Keywords "glucose 6-phosphate-dehydrogenase or G6 PD, ... 详细信息
来源: 评论
Genetic Diagnosis in a Big Chinese Family with Polycystic Kidney Disease and Thalassemia Minor
Genetic Diagnosis in a Big Chinese Family with Polycystic Ki...
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中华医学会第十五全国医学遗传学学术会议中国医师协会医学遗传医师分会第一届全国学术会议2016浙江省医学遗传学年会
作者: Xiong Jun Miao Yun Chen Jianfan Xu Huiling Huang Huajie Xu Xiangmin Xiong Fu Department of Medical Genetics Southern Medical University Department of Organ Transplantation Nanfang Hospital
Objective To identify genetic defects in a large family with polycystic kidney disease and thalasse mia minor. Method Whole genome next-generation sequencing was performed on the proband and clinical e valuation was t... 详细信息
来源: 评论
Concurrent Genetic Diagnosis of Beta Thalassemia Mutation and Aneuploidy Screening at Single-Cell Level
Concurrent Genetic Diagnosis of Beta Thalassemia Mutation an...
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中华医学会第十五全国医学遗传学学术会议中国医师协会医学遗传医师分会第一届全国学术会议2016浙江省医学遗传学年会
作者: Liu Wei Qiang Liu Jian Qiao He Wen Yin Du Hong Zi Zhang Hui Min Hu Dan Sun Xiao Fang Third affiliated hospital of guangzhou medical university
Objective The purpose of this study is to evaluate the WGA efficiency at HBB gene region between two most popular WGA method, MALBAC and MDA. Thus to chose the best WGA method for pre-implantation genetic diagnosis of... 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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中华医学会第十五全国医学遗传学学术会议中国医师协会医学遗传医师分会第一届全国学术会议2016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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中华医学会第十五全国医学遗传学学术会议中国医师协会医学遗传医师分会第一届全国学术会议2016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
Epigenetic Memory Affects Hematopoietic Efficiency of i PSCs Derived from PBMCs and KRAS Enhanced the Differentiation to CD34+ Cell
Epigenetic Memory Affects Hematopoietic Efficiency of i PSCs...
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中华医学会第十五全国医学遗传学学术会议中国医师协会医学遗传医师分会第一届全国学术会议2016浙江省医学遗传学年会
作者: Fan Di Niu Xiaohua Song Bing Sun Xiaofang The Third Affiliated Hospital of Guangzhou Medical University
Objective Several studies have discussed the possibility that donor cell type may influence the e pigenetics and differentiation potential of i PSCs, but it remains unclear whether i PSCs derived fro m different tissu... 详细信息
来源: 评论
A novel compound heterozygous variants in the LHCGR gene identified in a leydig cell hypoplasia type 1 pedigree
A novel compound heterozygous variants in the LHCGR gene ide...
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中华医学会第十五全国医学遗传学学术会议中国医师协会医学遗传医师分会第一届全国学术会议2016浙江省医学遗传学年会
作者: Xu Yufei Chen Yulin Hu Xuyun Li Guoqing Wang xiumin Shen Yiping Wang Jian Department of Medical Genetics and Molecular Diagnostic Laboratory Shanghai Children's Medical CenterShanghai Jiao Tong University School of Medicine Department of Laboratory Medicine Boston Children's Hospital
Objective Leydig cell hypoplasia(LCH) is a rare disease and one of the causes of male disorder of sexual differentiation(DSD) in severe cases. Mutations in the LH/chorionic gonadotrophin receptor(LHCGR) gene lea... 详细信息
来源: 评论