{"id":56484,"date":"2024-10-29T12:29:37","date_gmt":"2024-10-29T16:29:37","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/2024\/10\/29\/neue-vierteljaehrliche-berichte-oktober-2024\/"},"modified":"2024-10-29T13:08:15","modified_gmt":"2024-10-29T17:08:15","slug":"neue-vierteljaehrliche-berichte-oktober-2024","status":"publish","type":"post","link":"https:\/\/www.simonssearchlight.org\/de\/2024\/10\/29\/neue-vierteljaehrliche-berichte-oktober-2024\/","title":{"rendered":"Neue viertelj\u00e4hrliche Datenberichte &#8211; Oktober 2024"},"content":{"rendered":"<h4><strong>Unsere Quartalsberichte f\u00fcr Oktober 2024 sind vollgepackt mit neuen Informationen von <span class=\"notranslate\">Simons Searchlight<\/span>-Teilnehmern zu 63 genetischen Gemeinschaften (vollst\u00e4ndige Liste unten)!<\/strong><\/h4>\n<p><span style=\"font-weight: 400;\">Dazu geh\u00f6ren 7 neue Gruppen:<\/span><\/p>\n<ul>\n<li><span style=\"font-weight: 400;\">15q13.3 Deletion<\/span><\/li>\n<li><span style=\"font-weight: 400;\">ANK2<\/span><\/li>\n<li><span style=\"font-weight: 400;\">EHMT1<\/span><\/li>\n<li><span style=\"font-weight: 400;\">GRIN2A<\/span><\/li>\n<li><span style=\"font-weight: 400;\">KMT2C<\/span><\/li>\n<li><span style=\"font-weight: 400;\">NAA15<\/span><\/li>\n<li><span style=\"font-weight: 400;\">POGZ<\/span><\/li>\n<\/ul>\n<p><strong>Ihr viertelj\u00e4hrlicher Bericht wird auf Ihrer <span class=\"notranslate\">Simons Searchlight<\/span>-Webseite ver\u00f6ffentlicht (finden Sie Ihre Gen-Webseite): <a href=\"http:\/\/bit.ly\/Genes_We_Study\">bit.ly\/Genes_We_Study<\/a><\/strong><\/p>\n<p>Sie k\u00f6nnen diese Ressource gerne an medizinische Dienstleister, P\u00e4dagogen und Familienmitglieder weitergeben, die sie hilfreich finden k\u00f6nnten. <span style=\"font-weight: 400;\">Vergessen Sie bitte nicht, Ihr<\/span><a href=\"https:\/\/bit.ly\/Simons_Searchlight_Dashboard\"> <span style=\"font-weight: 400;\">Dashboard<\/span><\/a><span style=\"font-weight: 400;\"> regelm\u00e4\u00dfig auf neue Umfragen zu \u00fcberpr\u00fcfen, damit Sie Ihr Wissen mit <span class=\"notranslate\">Simons Searchlight<\/span> teilen k\u00f6nnen.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Wie immer m\u00f6chten wir uns bei allen Familien f\u00fcr ihre Teilnahme bedanken &#8211; ohne Sie k\u00f6nnten wir das nicht tun! Ein besonderer Dank geht an unsere Partner in der Patientenvertretung f\u00fcr ihre kontinuierliche Unterst\u00fctzung.   <\/span><\/p>\n<p><span style=\"text-decoration: underline;\">Vollst\u00e4ndige Liste der genetischen Gemeinschaften mit einem neuen viertelj\u00e4hrlichen Bericht:<\/span><\/p>\n<p>&#8211; 15q11.2 BP1-BP2 Deletion<br \/>\n&#8211; 16p11.2 Deletion<br \/>\n&#8211; 16p11.2 Verdoppelung<br \/>\n&#8211; 16p13.11 Deletion<br \/>\n&#8211; 1q21.1 Deletion<br \/>\n&#8211; 1q21.1 Verdoppelung<br \/>\n&#8211; 2p16.3 Deletion<br \/>\n&#8211; 5p-Deletion<br \/>\n&#8211; 7q11.23 Duplikation<br \/>\n&#8211; ADNP<br \/>\n&#8211; ANKRD11<br \/>\n&#8211; ARID1B<br \/>\n&#8211; ASXL3<br \/>\n&#8211; ATRX<br \/>\n&#8211; CHAMP1<br \/>\n&#8211; CHD2<br \/>\n&#8211; CHD8<br \/>\n&#8211; CLCN4<br \/>\n&#8211; CSNK2A1<br \/>\n&#8211; CSNK2B<br \/>\n&#8211; CTNNB1<br \/>\n&#8211; CUL3<br \/>\n&#8211; DEAF1<br \/>\n&#8211; Distale 16p11.2-Deletion<br \/>\n&#8211; Distale 16p11.2-Duplikation<br \/>\n&#8211; DLG4<br \/>\n&#8211; DYNC1H1<br \/>\n&#8211; DYRK1A<br \/>\n&#8211; FOXP1<br \/>\n&#8211; GRIN1<br \/>\n&#8211; GRIN2B<br \/>\n&#8211; HIVEP2<br \/>\n&#8211; HNRNPH2<br \/>\n&#8211; IRF2BPL<br \/>\n&#8211; KDM6B<br \/>\n&#8211; KdVS<br \/>\n&#8211; KMT2E<br \/>\n&#8211; MED13L<br \/>\n&#8211; MEF2C<br \/>\n&#8211; PACS1<br \/>\n&#8211; PPP2R1A<br \/>\n&#8211; PPP2R5D<br \/>\n&#8211; PPP3CA<br \/>\n&#8211; SCN2A<br \/>\n&#8211; SETBP1<br \/>\n&#8211; SETD5<br \/>\n&#8211; SLC6A1<br \/>\n&#8211; STXBP1<br \/>\n&#8211; SYNGAP1<br \/>\n&#8211; TANC2<br \/>\n&#8211; TBR1<br \/>\n&#8211; TLK2<br \/>\n&#8211; TRIO<br \/>\n&#8211; TRIP12<br \/>\n&#8211; WDFY3<br \/>\n&#8211; ZNF292<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Unser neuester Bericht bietet aktualisierte Einblicke und neue Daten zu den Teilnehmern von Simons Searchlight!<\/p>\n","protected":false},"author":18,"featured_media":47093,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","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":""},"categories":[331],"tags":[],"acf":[],"_links":{"self":[{"href":"https:\/\/www.simonssearchlight.org\/de\/wp-json\/wp\/v2\/posts\/56484"}],"collection":[{"href":"https:\/\/www.simonssearchlight.org\/de\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.simonssearchlight.org\/de\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/de\/wp-json\/wp\/v2\/users\/18"}],"replies":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/de\/wp-json\/wp\/v2\/comments?post=56484"}],"version-history":[{"count":3,"href":"https:\/\/www.simonssearchlight.org\/de\/wp-json\/wp\/v2\/posts\/56484\/revisions"}],"predecessor-version":[{"id":56505,"href":"https:\/\/www.simonssearchlight.org\/de\/wp-json\/wp\/v2\/posts\/56484\/revisions\/56505"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/de\/wp-json\/wp\/v2\/media\/47093"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/de\/wp-json\/wp\/v2\/media?parent=56484"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/de\/wp-json\/wp\/v2\/categories?post=56484"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/de\/wp-json\/wp\/v2\/tags?post=56484"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}