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作品数:61被引量:52H指数:4
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相关领域:医药卫生更多>>
相关作者:叶斌刘恺更多>>
相关机构:浙江工业大学更多>>
相关期刊:《World Journal of Emergency Medicine》《World Journal of Neurology》《外文科技期刊数据库(文摘版)医药卫生》《World Journal of Obstetrics and Gynecology》更多>>
相关基金:国家自然科学基金俄罗斯基础研究基金国家重点基础研究发展计划更多>>
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Complement Gene Mutation and Ehlers-Danlos Syndrome
《Journal of Biosciences and Medicines》2020年第6期28-36,共9页Golder N. Wilson Sahil S. Tonk Vijay S. Tonk Richard Lampe 
Background: Dental complications of Ehlers-Danlos syndrome (EDS) include periodontitis with gum fragility and inflammation, enamel hypoplasia with frequent car...
关键词:Ehlers-Danlos Syndrome PERIODONTITIS Complement Component 1R Gene Mutations Arthritis-Adrenaline Disorder Whole Exome Sequencing 
Genomic Analysis of 727 Patients with Ehlers-Danlos Syndrome I: Clinical Perspective Relates 23 Genes to a Maternally Influenced Arthritis-Adrenaline Disorder被引量:2
《Journal of Biosciences and Medicines》2019年第12期181-204,共24页Golder N. Wilson 
A novel medical approach for qualifying DNA variants found by whole exome sequencing (WES) facilitates discovery of new gene-disease relationships and emphasizes that DNA change must be correlated with clinical findin...
关键词:EHLERS-DANLOS Syndrome Connective Tissue DYSPLASIA Arthritis-Adrenaline DISORDER Articulo-Autonomic DYSPLASIA Whole Exome Sequencing Collagen GENES 
Clinical Analysis Supports Articulo-Autonomic Dysplasia as a Unifying Pathogenic Mechanism in Ehlers-Danlos Syndrome and Related Conditions被引量:3
《Journal of Biosciences and Medicines》2019年第6期149-168,共20页Golder N. Wilson 
Findings in 1656 patients referred for evaluation of Ehlers-Danlos syndrome, 710 evaluated systematically using novel history and physical forms, defined a characteristic clinical pattern termed arthritis-adrenaline d...
关键词:EHLERS-DANLOS Syndrome Arthritis-Adrenaline Disorder Connective Tissue DYSPLASIA HYPERMOBILITY DYSAUTONOMIA Joint LAXITY Skin Elasticity IBS POTS MCAD 
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