{"id":39191,"date":"2019-10-14T09:17:25","date_gmt":"2019-10-14T13:17:25","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/39191-2\/"},"modified":"2024-01-29T10:00:33","modified_gmt":"2024-01-29T15:00:33","slug":"39191-2","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/fr\/39191-2\/","title":{"rendered":""},"content":{"rendered":"<h2><strong>S\u00e9quen\u00e7age clinique de l&#8217;exome entier pour le diagnostic des troubles mend\u00e9liens<\/strong><\/h2>\n<p>Article de recherche original de Y. Yang <em>et al.<\/em> (2013).<\/p>\n<p>Lire le r\u00e9sum\u00e9 <a href=\"https:\/\/www.nejm.org\/doi\/full\/10.1056\/NEJMoa1306555\">ici<\/a>.<\/p>\n<p>Dans cette \u00e9tude, le s\u00e9quen\u00e7age de l&#8217;exome entier a \u00e9t\u00e9 utilis\u00e9 pour rechercher les causes g\u00e9n\u00e9tiques de retards de d\u00e9veloppement inexpliqu\u00e9s, de d\u00e9ficiences intellectuelles et de diff\u00e9rences neurologiques chez 250 enfants. Un enfant pr\u00e9sentait une mutation du g\u00e8ne SYNGAP1 qui serait \u00e0 l&#8217;origine de sa d\u00e9ficience intellectuelle.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>S\u00e9quen\u00e7age clinique de l&#8217;exome entier pour le diagnostic des troubles mend\u00e9liens Article de recherche original de Y. Yang et al. (2013). Lire le r\u00e9sum\u00e9 ici. Dans cette \u00e9tude, le s\u00e9quen\u00e7age de l&#8217;exome entier a \u00e9t\u00e9 utilis\u00e9 pour rechercher les causes g\u00e9n\u00e9tiques de retards de d\u00e9veloppement inexpliqu\u00e9s, de d\u00e9ficiences intellectuelles et de diff\u00e9rences neurologiques chez 250 [&hellip;]<\/p>\n","protected":false},"author":13,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"_relevanssi_hide_post":"","_relevanssi_hide_content":"","_relevanssi_pin_for_all":"","_relevanssi_pin_keywords":"","_relevanssi_unpin_keywords":"","_relevanssi_related_keywords":"","_relevanssi_related_include_ids":"","_relevanssi_related_exclude_ids":"","_relevanssi_related_no_append":"","_relevanssi_related_not_related":"","_relevanssi_related_posts":"","_relevanssi_noindex_reason":"","footnotes":""},"acf":[],"_links":{"self":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/39191"}],"collection":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/users\/13"}],"replies":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/comments?post=39191"}],"version-history":[{"count":1,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/39191\/revisions"}],"predecessor-version":[{"id":39197,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/39191\/revisions\/39197"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/media?parent=39191"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}