{"id":72,"date":"2021-01-29T11:55:14","date_gmt":"2021-01-29T11:55:14","guid":{"rendered":"https:\/\/ring20researchsupport.co.uk\/?page_id=72"},"modified":"2024-11-26T17:09:04","modified_gmt":"2024-11-26T17:09:04","slug":"research","status":"publish","type":"page","link":"https:\/\/ring20researchsupport.co.uk\/zh\/research\/","title":{"rendered":"\u7814\u7a76"},"content":{"rendered":"
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r(20)\u7efc\u5408\u5f81\u88ab\u8ba4\u4e3a\u662f\u4e00\u79cd\u7814\u7a76\u4e0d\u8db3\u7684\u7f55\u89c1\u75c5\u3002\u533b\u5b66\u6587\u732e\u4e2d\u5173\u4e8e\u8be5\u75c5\u7684\u62a5\u9053\u6709\u9650\uff0c\u8bb8\u591a\u6587\u732e\u4ec5\u5305\u542b\u4e2a\u6848\u7814\u7a76\uff0c\u800c\u6700\u5927\u7684\u7814\u7a76\u961f\u5217\uff08\u4e34\u5e8a\u548c\/\u6216\u9057\u4f20\u5b66\u7814\u7a76\uff09\u6700\u591a\u4e5f\u53ea\u670925\u4f8b\u60a3\u8005\u3002\u56e0\u6b64\uff0c\u6211\u4eec\u76ee\u524d\u5c1a\u4e0d\u6e05\u695a\u662f\u5426\u771f\u6b63\u4e86\u89e3r(20)\u7efc\u5408\u5f81\u7684\u9057\u4f20\u5b66\uff08\u57fa\u56e0\u578b\uff09\u3001\u75c7\u72b6\u8303\u56f4\u548c\u76f8\u5173\u5408\u5e76\u75c7\uff08\u8868\u578b\uff09\uff0c\u4ee5\u53ca\u60a3\u8005\u4e00\u751f\u4e2d\u7684\u5178\u578b\u75c5\u7a0b\u3002.<\/p>

Ring20 \u7814\u7a76\u4e0e\u652f\u6301\u82f1\u56fd\u9996\u5e2d\u4fe1\u606f\u5b98\u7684\u4e3b\u8981\u76ee\u6807\u4e4b\u4e00\u662f\u5bfb\u627e\u548c\u4fc3\u8fdb\u5408\u4f5c\u7814\u7a76\u7684\u673a\u4f1a\uff0c\u4ee5\u63d0\u9ad8\u4eba\u4eec\u5bf9 r(20) \u7efc\u5408\u5f81\u7684\u8ba4\u8bc6\uff0c\u5e76\u6700\u7ec8\u6539\u5584\u4e16\u754c\u5404\u5730\u60a3\u6709 r(20) \u7efc\u5408\u5f81\u7684\u4e2a\u4f53\u7684\u5065\u5eb7\u72b6\u51b5\u3002.<\/p>

Ring20 \u5236\u5b9a\u4e86\u4e00\u9879\u7531\u56db\u5927\u652f\u67f1\u7ec4\u6210\u7684\u7814\u53d1\u6218\u7565\uff0c\u6211\u4eec\u5e0c\u671b\u6709\u671d\u4e00\u65e5\u80fd\u591f\u5f15\u9886\u6211\u4eec\u8d70\u5411\u7cbe\u51c6\u533b\u7597\u3002.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t

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\u7814\u7a76\u57fa\u91d1\u52df\u6350\u6d3b\u52a8<\/h2>\t\t\t\t<\/div>\n\t\t\t\t
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2017 \u5e74\uff0c\u6211\u4eec\u53d1\u8d77\u4e86\u7814\u7a76\u57fa\u91d1\u6d3b\u52a8\uff0c\u4e3a\u91cd\u8981\u7684\u7814\u7a76\u7b79\u96c6\u4e86 78,000 \u82f1\u9551\u7684\u8d44\u91d1\u3002.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t

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\n\t\t\t\t\t\t\u8bf7\u8bbf\u95ee\u6211\u4eec\u7684 UNRAVEL \u9875\u9762\uff0c\u4e86\u89e3\u6211\u4eec\u4e0e Illumina \u5408\u4f5c\uff0c\u81f4\u529b\u4e8e\u6539\u8fdb r(20) \u7efc\u5408\u5f81\u8bca\u65ad\u7684\u5de5\u4f5c\u3002\t\t\t\t\t<\/p>\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t

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\n\t\t\t\t\t\t\u9605\u8bfb\u6211\u4eec\u53d1\u8868\u7684\u5173\u4e8e\u5728 r(20) \u4e2d\u4f7f\u7528\u751f\u916e\u996e\u98df\u7597\u6cd5\u7684\u8bba\u6587\t\t\t\t\t<\/p>\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t

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\n\t\t\t\t\t\t\u6211\u4eec\u5df2\u83b7\u5f97\u8d44\u91d1\u652f\u6301\u4e00\u9879\u5173\u4e8er(20)\u7efc\u5408\u5f81\u7684\u81ea\u7136\u53f2\u548c\u751f\u7269\u6807\u5fd7\u7269\u7814\u7a76\uff0c\u6211\u4eec\u5e0c\u671b\u8be5\u7814\u7a76\u4e8e2021\u5e74\u542f\u52a8\u3002\t\t\t\t\t<\/p>\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t

\n\t\t\t\t\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\t\t\t\u70b9\u51fb\u8fd9\u91cc<\/span>\n\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<\/div>","protected":false},"excerpt":{"rendered":"

r(20) syndrome is considered an under-researched rare disease. There is limited information published\u00a0 in medical literature, with many publications featuring single case studies and the largest cohorts for research studies (clinical and\/or genetic) comprising a maximum of 25 patients. Thus it is unclear as to whether we truly yet understand the genetics (genotype), range of […]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"site-sidebar-layout":"no-sidebar","site-content-layout":"page-builder","ast-site-content-layout":"default","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"disabled","ast-breadcrumbs-content":"","ast-featured-img":"disabled","footer-sml-layout":"","ast-disable-related-posts":"","theme-transparent-header-meta":"default","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"footnotes":""},"class_list":["post-72","page","type-page","status-publish","hentry"],"yoast_head":"\nResearch - Ring20 Research and Support UK CIO<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/ring20researchsupport.co.uk\/zh\/research\/\" \/>\n<meta property=\"og:locale\" content=\"zh_CN\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Research - Ring20 Research and Support UK CIO\" \/>\n<meta property=\"og:description\" content=\"r(20) syndrome is considered an under-researched rare disease. There is limited information published\u00a0 in medical literature, with many publications featuring single case studies and the largest cohorts for research studies (clinical and\/or genetic) comprising a maximum of 25 patients. 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