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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461-470 订阅
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Evaluated the Value of Hb A for Screening Newborn Beta Thalassemia
Evaluated the Value of Hb A for Screening Newborn Beta Thala...
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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: Huang Peng Chen Qiuli He Sheng Chen Biyan Lin Li Wei Yuan Xiong Fu Xu Xiang-min Medical Genetics departments Southern medical universityGuangzhou Central Laboratory of Genetic and Metabolism MCH Hospital of Guangxi Autonomous region
Objective To validate the relationship of Hb A composition in newborn peripheral blood and age/g estation-week/weight. To evaluate the value of Hb A for newborn beta thalassemia screening. Method Retrospective analysi... 详细信息
来源: 评论
A novel FOXL2 mutation was identified in one family with both types of blepharophimosis-ptosis-epicanthus inversus syndrome
A novel FOXL2 mutation was identified in one family with bot...
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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: yang lin xing yiqiao li tuo Department of Ophthalmology Renmin Hospital of Wuhan University Department of Ophthalmology The Central Hospital of Enshi Autonomous Prefecture
Objective Purpose: Blepharophimosis-ptosis-epicanthus inversus syndrome(BPES) is a rare autosomal dominant disease, which has been divided into two types according to whether it has premature ovarian failure. Mutati... 详细信息
来源: 评论
De novo mutation of KAT6B gene in a patient with short stature
De novo mutation of KAT6B gene in a patient with short statu...
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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 Guoqiang Li Niu Li Juan Ding Yu YU Tingting Wang Xiumin Wang Jian Institute of Pediatric Translational Medicine Shanghai Children's Medical Center Shanghai Jiaotong University School of Medicine Departments of Medical Genetics Shanghai Children's Medical Center Shanghai Jiaotong University School of Medicine Departments of Endocrinology Shanghai Children's Medical Center Shanghai Jiaotong University School of Medicine Departments of Laboratory Medicine Shanghai Children's Medical Center Shanghai Jiaotong University School of Medicine
Objective Short stature is defined as a height more than two standard deviations(SD) below the mean height for a given age, gender, and population. Short stature in childhood is a common reason for referral to pediatr... 详细信息
来源: 评论
Bioinformatics analysis of gene expression profiles of dermatomyositis
Bioinformatics analysis of gene expression profiles of derma...
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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: Chen Liangyuan Department of Medical Genetics Fuzhou General Hospital
Objective Dermatomyositis(DM) is a type of autoimmune inflammatory myopathy, which primaril y affects the skin and muscle. The underlying mechanisms of DM remain poorly understood. The present study aimed to explore g... 详细信息
来源: 评论
Loss of TRPS1 stimulates Epithelial-Mesenchymal Transition and metastasis through FOXA1 repression
Loss of TRPS1 stimulates Epithelial-Mesenchymal Transition a...
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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: Yan Guang-Rong Huang Jin-Zhou Chen Min Biomedicine Research Center The Third Affiliated Hospital of Guangzhou Medicinal University Key Laboratory for Major Obstetric Diseases of Guangdong Province Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes
Objective The tricho-rhino-phalangeal syndrome 1(TRPS1) gene, which was initially found to be associated with tricho-rhino-phalangeal syndrome, is critical for the development and differentiation of bone, hair follicl... 详细信息
来源: 评论
The carrier rate and mutation spectrum of genes associated with hearing loss in South China hearing female population of childbearing age
The carrier rate and mutation spectrum of genes associated w...
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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 Yan Wu Jing Ding Hongke Mai Mingqin Zeng Yukun Liu Ling Yin Aihua Medical Genetic Center Guangdong Women and Children Hospital Maternal and Children Metabolic-Genetic Key Laboratory Guangdong Women and Children Hospital
Objective Considering the fact that hearing loss occurs in 1 to 3 of 1,000 live births and approxim ately 90 to 95 percent of them are born into hearing families, it is of importance and necessity to g et better under... 详细信息
来源: 评论
GRIN2A polymorphism rs1448258 associated with schizophrenia in Chinese Han population
GRIN2A polymorphism rs1448258 associated with schizophrenia ...
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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: Hu jiaxin Bio-X Institutes Shanghai Jiaotong university
Objective Schizophrenia is a polygenetic and clinically heterogeneous disorder with early mortalit y and high heritability. Some studies indicated the dysfunction of neurotransmission mediated by t he downregulated ex... 详细信息
来源: 评论
Human Oocyte Maturation Arrest Caused by A Novel Missense Mutation in TUBB8
Human Oocyte Maturation Arrest Caused by A Novel Missense Mu...
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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 Haibo Xiang Jingjing Wang Wei Qian Chunfeng Li Hong Center for Reproduction and Genetics The affiliated Suzhou Hospital of Nanjing Medical University Center for Reproduction and Genetics Suzhou Municipal Hospital
Objective To investigated the mutations of TUBB8 gene in a patient with oocyte maturation arres t at metaphase I. Method Peripheral blood was collected from the patient, her elder sister and their mother after giv ing... 详细信息
来源: 评论
Association study of GRIK4 polymorphisms and major depressive disorder in the Han Chinese population
Association study of GRIK4 polymorphisms and 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: Ren Decheng Bio-X institute Shanghai Jiaotong university
Objective Major depressive disorder(MDD) is a common and complex mental disorder characte rized by depression. Recent studies found that glutamate ionotropic receptor kainate type subunit 4(GRIK4) is associated with t... 详细信息
来源: 评论
EFFECT OF PH ON THE DEVELOPMENT OF EMBRYOS IN VITRO UNDER THE INFLUENCE OF TEMPERATURE, OSMOLARITY AND OXYGEN.
EFFECT OF PH ON THE DEVELOPMENT OF EMBRYOS IN VITRO UNDER 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: WANG WEI HENAN PROVENCIAL PEOPLES HOSPITAL
Objective It is crucial for IVF laboratories to reduce the stress upon embryos for optimizing the in vitro culture environment. The term of p H is one of the parameters influencing the embryo development and is comple... 详细信息
来源: 评论