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601 lines
No EOL
117 KiB
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<div class="search"><div class="search_form"><label for="database" class="offscreen_noflow">Search database</label><select id="database"><optgroup label="Recent"><option value="pmc" selected="selected" data-ac_dict="pmc-search-autocomplete">PMC</option><option value="nuccore">Nucleotide</option><option value="books">Books</option><option value="omim" class="last">OMIM</option></optgroup><optgroup label="All"><option value="gquery">All Databases</option><option value="assembly">Assembly</option><option value="biocollections">Biocollections</option><option value="bioproject">BioProject</option><option value="biosample">BioSample</option><option value="books">Books</option><option value="clinvar">ClinVar</option><option value="cdd">Conserved Domains</option><option value="gap">dbGaP</option><option value="dbvar">dbVar</option><option value="gene">Gene</option><option value="genome">Genome</option><option value="gds">GEO DataSets</option><option value="geoprofiles">GEO Profiles</option><option value="gtr">GTR</option><option value="ipg">Identical Protein Groups</option><option value="medgen" data-ac_dict="medgen_disease_name">MedGen</option><option value="mesh" data-ac_dict="mesh_suggestions">MeSH</option><option value="nlmcatalog">NLM Catalog</option><option value="nuccore">Nucleotide</option><option value="omim">OMIM</option><option value="pmc" data-ac_dict="pmc-search-autocomplete">PMC</option><option value="protein">Protein</option><option value="proteinclusters">Protein Clusters</option><option value="protfam">Protein Family Models</option><option value="pcassay">PubChem BioAssay</option><option value="pccompound">PubChem Compound</option><option value="pcsubstance">PubChem Substance</option><option value="pubmed" data-ac_dict="pm_related_queries_2">PubMed</option><option value="snp">SNP</option><option value="sra">SRA</option><option value="structure">Structure</option><option value="taxonomy">Taxonomy</option><option value="toolkit">ToolKit</option><option value="toolkitall">ToolKitAll</option><option value="toolkitbookgh">ToolKitBookgh</option></optgroup></select><div class="nowrap"><label for="term" class="offscreen_noflow" accesskey="/">Search term</label><div class="nowrap"><input type="text" name="term" id="term" title="Search PMC. Use up and down arrows to choose an item from the autocomplete." value=""Ther Adv Rare Dis"[jour]" class="jig-ncbiclearbutton jig-ncbiautocomplete" data-jigconfig="dictionary:'pmc-search-autocomplete',disableUrl:'NcbiSearchBarAutoComplCtrl'" autocomplete="off" data-sbconfig="ds:'no',pjs:'yes',afs:'yes'" /></div><button id="search" type="submit" class="button_search nowrap" cmd="go">Search</button></div></div><ul class="searchlinks inline_list"><set></set><li><a name="SaveSearch" title="Click to create an email alert for this search" href="/sites/myncbi/searches/save?db=pmc&qk=92095" id="SaveSearch">Create alert</a></li><li><a href="/pmc/journals/">Journal List</a></li><li><a href="/pmc/advanced">Advanced</a></li><li class="help"><a id="help" class="jig-ncbihelpwindow" target="ncbihelp" name="help" href="/books/NBK3825">Help</a></li></ul></div>
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<div><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.EmailReport" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.EmailFormat" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.EmailCount" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.EmailStart" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.EmailSort" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.Email" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.EmailSubject" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.EmailText" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.EmailQueryKey" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.EmailHID" sid="1" type="hidden" value="1bSyH0iZJIBoTUOB1I2-TBLOYbck6j-faTUz1MYUND" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.QueryDescription" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.Key" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.Answer" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.Holding" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.HoldingFft" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.HoldingNdiSet" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.OToolValue" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.EmailTab.SubjectList" sid="1" type="hidden" value="" /></div><!-- hidden inputs -->
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</div>
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<div id="faceted_search" class="col two_col">
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<h2 class="offscreen_noflow">Result Filters</h2>
|
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<div class="facet_cont" data-db="pmc" data-default_grps="fg_types,fg_text_availability,fg_pubdate,fg_funding" data-sd="db:'pmc',op:'search',term:'%22Ther%20Adv%20Rare%20Dis%22%5Bjour%5D',qk:'92095',linkname:'',idsfromresult:'',extra:''"><ul class="facet" data-filter_id="types" id="_types"><li class="filter_grp "><div class="clearfix"><h3>Article attributes</h3><a href="#" data-value_id="" class="clear clear_hide">Clear</a></div><ul><li class="fil_val"><a href="#" data-value_id="associateddata">Associated Data</a></li><li class="fil_val"><a href="#" data-value_id="manuscripts">Author manuscripts</a></li><li class="fil_val"><a href="#" data-value_id="digitazed">Digitized back issues</a></li><li class="fil_val"><a href="#" data-value_id="medline">MEDLINE journals</a></li><li class="fil_val"><a href="#" data-value_id="openaccess">Open access</a></li><li class="fil_val"><a href="#" data-value_id="preprint">Preprints</a></li><li class="fil_val"><a href="#" data-value_id="retracted">Retracted</a></li></ul></li></ul><ul class="facet" data-filter_id="text_availability" id="_text_availability"><li class="filter_grp "><div class="clearfix"><h3>Text availability</h3><a href="#" data-value_id="" class="clear clear_hide">Clear</a></div><ul><li class="fil_val"><a href="#" data-value_id="embargoed">Include embargoed articles</a></li></ul></li></ul><ul class="facet" data-filter_id="pubdate" data-ds="yes" id="_pubdate"><li class="filter_grp"><div class="clearfix"><h3>Publication date</h3><a href="#" data-value_id="" class="clear clear_hide">clear</a></div><ul><li class="fil_val"><a href="#" data-value_id="y_1">1 year</a></li><li class="fil_val"><a href="#" data-value_id="y_5">5 years</a></li><li class="fil_val"><a href="#" data-value_id="y_10">10 years</a></li><li class="daterange"><a id="facet_date_rangepubdate" href="#facet_date_range_divpubdate" class="jig-ncbipopper" data-jigconfig="triggerPosition: 'middle right', destPosition: 'middle left', hasArrow: true, arrowDirection: 'left', closeEvent : 'click', openEvent: 'click', adjustFit: 'autoAdjust', openAnimation: 'none', closeAnimation: 'none', addCloseButton:true, width: '375px'">
|
||
Custom range...</a></li><div id="facet_date_range_divpubdate" style="display:none;" class="facets_dialog"><button class="ui-ncbipopper-close-button ui-ncbipopper-close-button-generated ui-state-default ui-corner-all ui-button-text-only ui-ncbibutton ui-ncbibutton-blue" generated="true" role="button" aria-disabled="false"><span class="ui-button-text">x</span></button><h4>Custom date range</h4><div><label class="offscreen_noflow" for="facet_date_st_yearpubdate">Start Year</label><input type="text" size="4" placeholder="YYYY" id="facet_date_st_yearpubdate" value="" class="input_date_ym" /><label class="offscreen_noflow" for="facet_date_st_monthpubdate">Start Month</label><input type="text" size="2" placeholder="MM" id="facet_date_st_monthpubdate" value="" class="input_date_ym" /><label class="offscreen_noflow" for="facet_date_st_daypubdate">Start Day</label><input type="text" size="2" placeholder="DD" id="facet_date_st_daypubdate" value="" /><span>to</span><label class="offscreen_noflow" for="facet_date_end_yearpubdate">End Year</label><input type="text" size="4" placeholder="YYYY" id="facet_date_end_yearpubdate" value="" class="input_date_ym" /><label class="offscreen_noflow" for="facet_date_end_monthpubdate">End Month</label><input type="text" size="2" placeholder="MM" id="facet_date_end_monthpubdate" value="" class="input_date_ym" /><label class="offscreen_noflow" for="facet_date_end_daypubdate">End Day</label><input type="text" size="2" placeholder="DD" id="facet_date_end_daypubdate" value="" /></div><div class="actions clearfix"><button class="jig-ncbibutton primary-action btn_date_apply" data-jigconfig="'color': 'ui-ncbibutton-blue'" id="facet_date_range_applypubdate">Apply</button><button class="jig-ncbibutton secondary-action btn_date_clear" data-jigconfig="'color': 'ui-ncbibutton-gray'" id="facet_date_range_clearpubdate">Clear</button></div></div></ul></li></ul><ul class="facet" data-filter_id="funding" id="_funding"><li class="filter_grp "><div class="clearfix"><h3>Research Funder</h3><a href="#" data-value_id="" class="clear clear_hide">Clear</a></div><ul><li class="fil_val"><a href="#" data-value_id="funder_nih">NIH</a></li><li class="fil_val"><a href="#" data-value_id="funder_ahrq">AHRQ</a></li><li class="fil_val"><a href="#" data-value_id="funder_acl">ACL</a></li><li class="fil_val"><a href="#" data-value_id="funder_aspr">ASPR</a></li><li class="fil_val"><a href="#" data-value_id="funder_cdc">CDC</a></li><li class="fil_val"><a href="#" data-value_id="funder_dhs">DHS</a></li><li class="fil_val"><a href="#" data-value_id="funder_epa">EPA</a></li><li class="fil_val"><a href="#" data-value_id="funder_fda">FDA</a></li><li class="fil_val"><a href="#" data-value_id="funder_nasa">NASA</a></li><li class="fil_val"><a href="#" data-value_id="funder_nist">NIST</a></li><li class="fil_val"><a href="#" data-value_id="funder_va">VA</a></li><li class="more"><a href="#funding_more" data-value_id="fetch_more" data-jigconfig=" hasArrow: true, arrowDirection: 'left', closeEvent : 'click', openEvent: 'click', adjustFit: 'autoAdjust', openAnimation: 'none', closeAnimation: 'none', addCloseButton:true, width: '300px'">Customize ...</a><div style="display:none;" id="funding_more"></div></li></ul></li></ul><ul class="facet facet_reset"><li><a href="#" data-value_id="reset">Clear all</a></li></ul><ul class="facet_tools"><li><a id="more_filter_groups_link" href="#more_filter_groups" class="jig-ncbipopper" data-jigconfig="triggerPosition: 'middle right', destPosition: 'top left', hasArrow: true, arrowDirection: 'left', closeEvent : 'click', openEvent: 'click', adjustFit: 'autoAdjust', openAnimation: 'none', closeAnimation: 'none', addCloseButton:true, width: '180px'">
|
||
Show additional filters</a></li><div id="more_filter_groups" style="display:none;" class="facets_dialog"><button class="ui-ncbipopper-close-button ui-ncbipopper-close-button-generated ui-state-default ui-corner-all ui-button-text-only ui-ncbibutton ui-ncbibutton-blue" generated="true" role="button" aria-disabled="false"><span class="ui-button-text">x</span></button><h4>Additional filters</h4><ul class="filter_groups_more facet"><li><input type="checkbox" id="fg_types" /><label for="fg_types">Article attributes</label></li><li><input type="checkbox" id="fg_text_availability" /><label for="fg_text_availability">Text availability</label></li><li><input type="checkbox" id="fg_pubdate" data-always_show="yes" /><label for="fg_pubdate">Publication date</label></li><li><input type="checkbox" id="fg_funding" data-always_show="yes" /><label for="fg_funding">Research Funder</label></li><li><input id="fg_field_search" type="checkbox" /><label for="fg_field_search">Search fields</label></li></ul><div class="actions clearfix"><button class="filter_groups_more_apply jig-ncbibutton primary-action" id="filter_groups_apply" data-jigconfig="'color': 'ui-ncbibutton-blue'">Show</button></div></div></ul><input name="EntrezSystem2.PEntrez.PMC.Facets.FacetsUrlFrag" sid="1" type="hidden" value="filters=" /><input name="EntrezSystem2.PEntrez.PMC.Facets.FacetSubmitted" sid="1" type="hidden" value="false" /><input name="EntrezSystem2.PEntrez.PMC.Facets.BMFacets" sid="1" type="hidden" value="" /></div>
|
||
</div>
|
||
<div id="maincontent" class="col seven_col">
|
||
<div class="content">
|
||
<div class="results_settings"><h4 class="left display_settings content_header jig-ncbipopper" id="display_set" data-jigconfig="triggerPosition : 'bottom center',destPosition : 'top center',destSelector : '#display_settings_menu', hasArrow : false,openEvent : 'click',closeEvent : 'click',isTriggerElementCloseClick: false,addCloseButton : true, multipleHandlesSelector:'#display_set ~ ul.display_settings a', groupName: 'entrez_pg'"><a href="#" class="tgt_dark">Display Settings:</a></h4><ul class="inline_list left display_settings"><li><a name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.Display" sid="2" href="#" sourceContent="display_settings_menu" id="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.Display">Summary,</a></li><li><a name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.Display" sid="3" href="#" sourceContent="display_settings_menu" id="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.Display">20 per page,</a></li><li><a name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.Display" sid="4" href="#" sourceContent="display_settings_menu" id="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.Display">Sorted by Default order</a></li></ul><div id="display_settings_menu" class="disp_settings tabPopper"><fieldset class="format"><legend>Format</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPresentation" sid="1" value="DocSum" format="" id="DocSum" checked="true" /><label for="DocSum">Summary</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPresentation" sid="2" value="DocSum" format="text" id="DocSumtext" /><label for="DocSumtext">Summary (text)</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPresentation" sid="3" value="MEDLINE" format="text" id="MEDLINEtext" /><label for="MEDLINEtext">MEDLINE</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPresentation" sid="4" value="uilist" format="text" id="uilisttext" /><label for="uilisttext">PMCID List</label></li></ul></fieldset><fieldset class="items"><legend>Items per page</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPageSize" sid="1" value="5" id="ps5" /><label for="ps5">5</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPageSize" sid="2" value="10" id="ps10" /><label for="ps10">10</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPageSize" sid="3" value="20" id="ps20" checked="true" /><label for="ps20">20</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPageSize" sid="4" value="50" id="ps50" /><label for="ps50">50</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sPageSize" sid="5" value="100" id="ps100" /><label for="ps100">100</label></li></ul></fieldset><fieldset class="sort"><legend>Sort by</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sSort" sid="1" value="none" id="none" checked="true" /><label for="none">Default order</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sSort" sid="2" value="PubDate" id="PubDate" /><label for="PubDate">Pub Date</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sSort" sid="3" value="Journal" id="Journal" /><label for="Journal">Journal</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.sSort" sid="4" value="PmcLiveDate" id="PmcLiveDate" /><label for="PmcLiveDate">PMC Live Date</label></li></ul></fieldset><button name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.SetDisplay" sid="1" class="button_apply ncbipopper-close-button">Apply</button></div><h4 class="content_header send_to align_right jig-ncbipopper" id="sendto" data-jigconfig="triggerPosition:'bottom center', destPosition : 'top center',destSelector : '#send_to_menu', hasArrow : false, openEvent : 'click',closeEvent : 'click', isTriggerElementCloseClick: false, addCloseButton:true, groupName: 'entrez_pg', adjustFit:'none'"><a href="#" sourceContent="send_to_menu" class="tgt_dark">Send to:</a><script type="text/javascript">
|
||
jQuery(document).ready( function () {
|
||
jQuery("#send_to_menu input[type='radio']").click( function () {
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<div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11907540" class="ui-helper-hidden-accessible">Select item 11907540</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="1" type="checkbox" id="UidCheckBox11907540" value="11907540" /><span>1.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=1&ncbi_uid=11907540&link_uid=11907540&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11907540/" class="view">Frequent report of vitamin deficiencies and use of supplements and complementary/alternative treatment approaches in patients with eosinophilic gastrointestinal diseases</a></div><div class="supp"><div class="desc">Brenderia A. Cameron, Elizabeth T. Jensen, Xiangfeng Dai, Chelsea Anderson, Ellyn Kodroff, Mary Jo Strobel, Amy Zicarelli, Sarah Gray, Amanda Cordell, Girish Hiremath, Evan S. Dellon</div><div class="details"><b>Ther Adv Rare Dis</b>. <span class="citation-publication-date">2025 Jan-Dec; </span>6: 26330040251326928. <span class="">Published online 2025 Mar 14. </span><span class="doi"><span>doi: </span>10.1177/26330040251326928</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11907540</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=1&ncbi_uid=11907540&link_uid=11907540&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11907540/">Article</a><a ref="ordinalpos=1&ncbi_uid=11907540&link_uid=11907540&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11907540/pdf/10.1177_26330040251326928.pdf">PDF–572K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11742144" class="ui-helper-hidden-accessible">Select item 11742144</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="2" type="checkbox" id="UidCheckBox11742144" value="11742144" /><span>2.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=2&ncbi_uid=11742144&link_uid=11742144&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11742144/" class="view">Behcet’s disease in a tertiary eye hospital in Pakistan</a></div><div class="supp"><div class="desc">Tabish Ali Shalwani, Alishan Khowaja, Narmeen Punjwani</div><div class="details"><b>Ther Adv Rare Dis</b>. <span class="citation-publication-date">2025 Jan-Dec; </span>6: 26330040251314126. <span class="">Published online 2025 Jan 18. </span><span class="doi"><span>doi: </span>10.1177/26330040251314126</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11742144</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=2&ncbi_uid=11742144&link_uid=11742144&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11742144/">Article</a><a ref="ordinalpos=2&ncbi_uid=11742144&link_uid=11742144&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11742144/pdf/10.1177_26330040251314126.pdf">PDF–688K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11726535" class="ui-helper-hidden-accessible">Select item 11726535</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="3" type="checkbox" id="UidCheckBox11726535" value="11726535" /><span>3.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=3&ncbi_uid=11726535&link_uid=11726535&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11726535/" class="view">Roadmap to advance therapeutics for <em>SYNGAP1</em>-related disorder: a patient organization perspective from SynGAP Research Fund</a></div><div class="supp"><div class="desc">J. Michael Graglia, Aaron J. Harding, Kathryn A. Helde</div><div class="details"><b>Ther Adv Rare Dis</b>. <span class="citation-publication-date">2025 Jan-Dec; </span>6: 26330040241308285. <span class="">Published online 2025 Jan 12. </span><span class="doi"><span>doi: </span>10.1177/26330040241308285</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11726535</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=3&ncbi_uid=11726535&link_uid=11726535&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11726535/">Article</a><a ref="ordinalpos=3&ncbi_uid=11726535&link_uid=11726535&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11726535/pdf/10.1177_26330040241308285.pdf">PDF–1.6M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11705338" class="ui-helper-hidden-accessible">Select item 11705338</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="4" type="checkbox" id="UidCheckBox11705338" value="11705338" /><span>4.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=4&ncbi_uid=11705338&link_uid=11705338&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11705338/" class="view">Hemophagocytic lymphohistiocytosis as the initial manifestation of bone marrow failure in a child with a TERC variant telomere biology disorder</a></div><div class="supp"><div class="desc">Daniel Medina-Neira, Giancarlo Alvarado-Gamarra, Brenda Huamaní-Condori, Nelson Purizaca-Rosillo, Noé Atamari-Anahui, Erick Matos-Villena, Raquel Garces-Ghilardi, Matilde Estupiñan-Vigil</div><div class="details"><b>Ther Adv Rare Dis</b>. <span class="citation-publication-date">2025 Jan-Dec; </span>6: 26330040241311621. <span class="">Published online 2025 Jan 6. </span><span class="doi"><span>doi: </span>10.1177/26330040241311621</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11705338</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=4&ncbi_uid=11705338&link_uid=11705338&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11705338/">Article</a><a ref="ordinalpos=4&ncbi_uid=11705338&link_uid=11705338&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11705338/pdf/10.1177_26330040241311621.pdf">PDF–812K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11683790" class="ui-helper-hidden-accessible">Select item 11683790</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="5" type="checkbox" id="UidCheckBox11683790" value="11683790" /><span>5.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=5&ncbi_uid=11683790&link_uid=11683790&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11683790/" class="view">WITHDRAWAL – An inborn error of metabolism presenting with apparently isolated subacute neuropsychiatric symptoms in an adolescent</a></div><div class="supp"><div class="details"><b>Ther Adv Rare Dis</b>. <span class="citation-publication-date">2024 Jan-Dec; </span>5: 26330040241309151. <span class="">Published online 2024 Dec 26. </span><span class="doi"><span>doi: </span>10.1177/26330040241309151</span></div><div class="details"><dl><dt class="strong red">Retracts: </dt><dd><a ref="ordinalpos=5&ncbi_uid=11683790&link_uid=11683790&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11555741/"><span class="correction-info"><b>Ther Adv Rare Dis</b>. 2024 Jan-Dec; 5: 26330040241290907. </span></a></dd></dl></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11683790</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=5&ncbi_uid=11683790&link_uid=11683790&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11683790/">Retraction</a><a ref="ordinalpos=5&ncbi_uid=11683790&link_uid=11683790&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11683790/pdf/10.1177_26330040241309151.pdf">PDF–420K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11650472" class="ui-helper-hidden-accessible">Select item 11650472</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="6" type="checkbox" id="UidCheckBox11650472" value="11650472" /><span>6.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=6&ncbi_uid=11650472&link_uid=11650472&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11650472/" class="view">Count Me In: patient-partnered research to address disparities for rare cancer patients</a></div><div class="supp"><div class="desc">Priyanka Bhakhri, Kolbe Phelps, Jorge Gómez Tejeda Zañudo, Erin Gwozdz, Sophia Ko, Taisha Hendrickson, Elana Anastasio, Diane M. Diehl, Corrie A. Painter, Mary McGillicuddy</div><div class="details"><b>Ther Adv Rare Dis</b>. <span class="citation-publication-date">2024 Jan-Dec; </span>5: 26330040241304440. <span class="">Published online 2024 Dec 16. </span><span class="doi"><span>doi: </span>10.1177/26330040241304440</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11650472</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=6&ncbi_uid=11650472&link_uid=11650472&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11650472/">Article</a><a ref="ordinalpos=6&ncbi_uid=11650472&link_uid=11650472&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11650472/pdf/10.1177_26330040241304440.pdf">PDF–1.8M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11650465" class="ui-helper-hidden-accessible">Select item 11650465</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="7" type="checkbox" id="UidCheckBox11650465" value="11650465" /><span>7.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=7&ncbi_uid=11650465&link_uid=11650465&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11650465/" class="view">Advancing rare disease measurement through the Rare Disease Clinical Outcome Assessment Consortium</a></div><div class="supp"><div class="desc">Naomi Knoble, Lindsey T. Murray</div><div class="details"><b>Ther Adv Rare Dis</b>. <span class="citation-publication-date">2024 Jan-Dec; </span>5: 26330040241307962. <span class="">Published online 2024 Dec 16. </span><span class="doi"><span>doi: </span>10.1177/26330040241307962</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11650465</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=7&ncbi_uid=11650465&link_uid=11650465&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11650465/">Article</a><a ref="ordinalpos=7&ncbi_uid=11650465&link_uid=11650465&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11650465/pdf/10.1177_26330040241307962.pdf">PDF–653K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11605767" class="ui-helper-hidden-accessible">Select item 11605767</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="8" type="checkbox" id="UidCheckBox11605767" value="11605767" /><span>8.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=8&ncbi_uid=11605767&link_uid=11605767&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11605767/" class="view">The MED13L Foundation strategic research plan: a roadmap to the future</a></div><div class="supp"><div class="desc">Rachel Heilmann, Anna Pfalzer, Terry Jo Bichell, Ananya Terala, Alicia Campbell, Dylan Taatjes, Jamal Ghoumid, Chad Grueter, Jennifer Bain, Randy Strich, Vanessa Dias, Kimberly Sokorai, Nicholas Seaver, Kelly Sexton, Kathleen Boychuck</div><div class="details"><b>Ther Adv Rare Dis</b>. <span class="citation-publication-date">2024 Jan-Dec; </span>5: 26330040241290252. <span class="">Published online 2024 Nov 28. </span><span class="doi"><span>doi: </span>10.1177/26330040241290252</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11605767</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=8&ncbi_uid=11605767&link_uid=11605767&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11605767/">Article</a><a ref="ordinalpos=8&ncbi_uid=11605767&link_uid=11605767&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11605767/pdf/10.1177_26330040241290252.pdf">PDF–1007K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11605736" class="ui-helper-hidden-accessible">Select item 11605736</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="9" type="checkbox" id="UidCheckBox11605736" value="11605736" /><span>9.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=9&ncbi_uid=11605736&link_uid=11605736&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11605736/" class="view">Gastrointestinal langerhans cell histiocytosis in an adult presenting with anal protrusion and multiple colorectal ulcers: a case report</a></div><div class="supp"><div class="desc">Nhu Tung Tran, Quoc Thanh Truong, Khuyen Thi Nguyen, The Anh Khoa Lai, Cong Thao Trinh, Van Trung Hoang</div><div class="details"><b>Ther Adv Rare Dis</b>. <span class="citation-publication-date">2024 Jan-Dec; </span>5: 26330040241301799. <span class="">Published online 2024 Nov 28. </span><span class="doi"><span>doi: </span>10.1177/26330040241301799</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11605736</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=9&ncbi_uid=11605736&link_uid=11605736&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11605736/">Article</a><a ref="ordinalpos=9&ncbi_uid=11605736&link_uid=11605736&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11605736/pdf/10.1177_26330040241301799.pdf">PDF–1.5M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11555743" class="ui-helper-hidden-accessible">Select item 11555743</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="10" type="checkbox" id="UidCheckBox11555743" value="11555743" /><span>10.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=10&ncbi_uid=11555743&link_uid=11555743&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11555743/" class="view">A patient organization perspective: charting the course to a cure for SCN2A-related disorders</a></div><div class="supp"><div class="desc">Leah F. Schust, Jennifer Burke, Christina SanInocencio, Brad A. Bryan, Karen S. Ho, Shawn M. Egan</div><div class="details"><b>Ther Adv Rare Dis</b>. <span class="citation-publication-date">2024 Jan-Dec; </span>5: 26330040241292645. <span class="">Published online 2024 Nov 11. </span><span class="doi"><span>doi: </span>10.1177/26330040241292645</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11555743</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=10&ncbi_uid=11555743&link_uid=11555743&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11555743/">Article</a><a ref="ordinalpos=10&ncbi_uid=11555743&link_uid=11555743&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11555743/pdf/10.1177_26330040241292645.pdf">PDF–1.4M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11465304" class="ui-helper-hidden-accessible">Select item 11465304</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="11" type="checkbox" id="UidCheckBox11465304" value="11465304" /><span>11.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=11&ncbi_uid=11465304&link_uid=11465304&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11465304/" class="view">A roadmap to cure CHD2-related disorders</a></div><div class="supp"><div class="desc">Stephanie Prince, Emily Bonkowski, Christopher McGraw, Christina SanInocencio, Heather C Mefford, Gemma Carvill, Brian Broadbent</div><div class="details"><b>Ther Adv Rare Dis</b>. <span class="citation-publication-date">2024 Jan-Dec; </span>5: 26330040241283749. <span class="">Published online 2024 Oct 8. </span><span class="doi"><span>doi: </span>10.1177/26330040241283749</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11465304</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=11&ncbi_uid=11465304&link_uid=11465304&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11465304/">Article</a><a ref="ordinalpos=11&ncbi_uid=11465304&link_uid=11465304&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11465304/pdf/10.1177_26330040241283749.pdf">PDF–1.7M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11425740" class="ui-helper-hidden-accessible">Select item 11425740</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="12" type="checkbox" id="UidCheckBox11425740" value="11425740" /><span>12.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=12&ncbi_uid=11425740&link_uid=11425740&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11425740/" class="view">Joining forces to develop individualized antisense oligonucleotides for patients with brain or eye diseases: the example of the Dutch Center for RNA Therapeutics</a></div><div class="supp"><div class="desc">Annemieke Aartsma-Rus, Rob W.J. Collin, Ype Elgersma, Marlen C. Lauffer, Willeke van Roon-Mom</div><div class="details"><b>Ther Adv Rare Dis</b>. <span class="citation-publication-date">2024 Jan-Dec; </span>5: 26330040241273465. <span class="">Published online 2024 Sep 23. </span><span class="doi"><span>doi: </span>10.1177/26330040241273465</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11425740</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=12&ncbi_uid=11425740&link_uid=11425740&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11425740/">Article</a><a ref="ordinalpos=12&ncbi_uid=11425740&link_uid=11425740&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11425740/pdf/10.1177_26330040241273465.pdf">PDF–667K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11418321" class="ui-helper-hidden-accessible">Select item 11418321</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="13" type="checkbox" id="UidCheckBox11418321" value="11418321" /><span>13.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=13&ncbi_uid=11418321&link_uid=11418321&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11418321/" class="view">27th Annual Conference of the United Mitochondrial Disease Foundation Abstracts - Mitochondrial Medicine 2024 - Cleveland, Ohio – June 26-29, 2024</a></div><div class="supp"><div class="details"><b>Ther Adv Rare Dis</b>. <span class="citation-publication-date">2024 Jan-Dec; </span>5: 26330040241276322. <span class="">Published online 2024 Sep 18. </span><span class="doi"><span>doi: </span>10.1177/26330040241276322</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11418321</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=13&ncbi_uid=11418321&link_uid=11418321&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11418321/">Article</a><a ref="ordinalpos=13&ncbi_uid=11418321&link_uid=11418321&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11418321/pdf/10.1177_26330040241276322.pdf">PDF–880K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11406484" class="ui-helper-hidden-accessible">Select item 11406484</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="14" type="checkbox" id="UidCheckBox11406484" value="11406484" /><span>14.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=14&ncbi_uid=11406484&link_uid=11406484&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11406484/" class="view">Addendum To: Study protocol of the HD-MED study aiming to personalize drug treatment in Huntington’s disease: a longitudinal, observational study to assess medication use and efficacy in relation to pharmacogenetics</a></div><div class="supp"><div class="desc">Stephanie Feleus, Maaike van der Lee, Jesse J. Swen, Raymund A. C. Roos, Susanne T. de Bot</div><div class="details"><b>Ther Adv Rare Dis</b>. <span class="citation-publication-date">2024 Jan-Dec; </span>5: 26330040241270369. <span class="">Published online 2024 Sep 13. </span><span class="doi"><span>doi: </span>10.1177/26330040241270369</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11406484</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=14&ncbi_uid=11406484&link_uid=11406484&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11406484/">Article</a><a ref="ordinalpos=14&ncbi_uid=11406484&link_uid=11406484&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11406484/pdf/10.1177_26330040241270369.pdf">PDF–785K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11193340" class="ui-helper-hidden-accessible">Select item 11193340</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="15" type="checkbox" id="UidCheckBox11193340" value="11193340" /><span>15.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=15&ncbi_uid=11193340&link_uid=11193340&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11193340/" class="view">Patient-advocate-led global coalition adapting fit-for-purpose outcomes measures to assure meaningful inclusion of DEEs in clinical trials</a></div><div class="supp"><div class="desc">JayEtta Hecker, Gabrielle Conecker, Chere Chapman, Rebecca Hommer, Natasha N. Ludwig, Gunes Sevinc, Sara Te, Mary Wojnaroski, Jenny Downs, Anne T. Berg</div><div class="details"><b>Ther Adv Rare Dis</b>. <span class="citation-publication-date">2024 Jan-Dec; </span>5: 26330040241249762. <span class="">Published online 2024 Jun 22. </span><span class="doi"><span>doi: </span>10.1177/26330040241249762</span></div><div class="details"><dl><dt class="strong">Correction in: </dt><dd><a ref="ordinalpos=15&ncbi_uid=11193340&link_uid=11193340&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11459491/"><span class="correction-info"><b>Ther Adv Rare Dis</b>. 2024 Jan-Dec; 5: 26330040241277869. </span></a></dd></dl></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11193340</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=15&ncbi_uid=11193340&link_uid=11193340&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11193340/">Article</a><a ref="ordinalpos=15&ncbi_uid=11193340&link_uid=11193340&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11193340/pdf/10.1177_26330040241249762.pdf">PDF–1.3M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11186390" class="ui-helper-hidden-accessible">Select item 11186390</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="16" type="checkbox" id="UidCheckBox11186390" value="11186390" /><span>16.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=16&ncbi_uid=11186390&link_uid=11186390&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11186390/" class="view">STXBP1: fast-forward to a brighter future – a patient organization perspective</a></div><div class="supp"><div class="desc">James R. Goss, Benjamin Prosser, Ingo Helbig, Charlene Son Rigby</div><div class="details"><b>Ther Adv Rare Dis</b>. <span class="citation-publication-date">2024 Jan-Dec; </span>5: 26330040241257221. <span class="">Published online 2024 Jun 18. </span><span class="doi"><span>doi: </span>10.1177/26330040241257221</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11186390</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=16&ncbi_uid=11186390&link_uid=11186390&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11186390/">Article</a><a ref="ordinalpos=16&ncbi_uid=11186390&link_uid=11186390&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11186390/pdf/10.1177_26330040241257221.pdf">PDF–1.0M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11143874" class="ui-helper-hidden-accessible">Select item 11143874</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="17" type="checkbox" id="UidCheckBox11143874" value="11143874" /><span>17.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=17&ncbi_uid=11143874&link_uid=11143874&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11143874/" class="view">Epilepsy and overgrowth–intellectual disability syndromes: a patient organization perspective on collaborating to accelerate pathways to treatment</a></div><div class="supp"><div class="desc">Kerry Grens, Kit M. Church, Eric Diehl, Senyene E. Hunter, Katrina Tatton-Brown, Jill Kiernan, Christal G. Delagrammatikas</div><div class="details"><b>Ther Adv Rare Dis</b>. <span class="citation-publication-date">2024 Jan-Dec; </span>5: 26330040241254123. <span class="">Published online 2024 May 31. </span><span class="doi"><span>doi: </span>10.1177/26330040241254123</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11143874</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=17&ncbi_uid=11143874&link_uid=11143874&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11143874/">Article</a><a ref="ordinalpos=17&ncbi_uid=11143874&link_uid=11143874&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11143874/pdf/10.1177_26330040241254123.pdf">PDF–853K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11131402" class="ui-helper-hidden-accessible">Select item 11131402</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="18" type="checkbox" id="UidCheckBox11131402" value="11131402" /><span>18.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=18&ncbi_uid=11131402&link_uid=11131402&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11131402/" class="view">Five cases of pulmonary <em>Aspergillus</em> nodules diagnosed at surgery and by pathology in immunocompetent patients, with a literature review</a></div><div class="supp"><div class="desc">Shuangxia Dong, Fengxiang Wang, Haizhen Jin, Xinjian Dai</div><div class="details"><b>Ther Adv Rare Dis</b>. <span class="citation-publication-date">2024 Jan-Dec; </span>5: 26330040241252446. <span class="">Published online 2024 May 27. </span><span class="doi"><span>doi: </span>10.1177/26330040241252446</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11131402</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=18&ncbi_uid=11131402&link_uid=11131402&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11131402/">Article</a><a ref="ordinalpos=18&ncbi_uid=11131402&link_uid=11131402&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11131402/pdf/10.1177_26330040241252446.pdf">PDF–1.1M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11110520" class="ui-helper-hidden-accessible">Select item 11110520</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="19" type="checkbox" id="UidCheckBox11110520" value="11110520" /><span>19.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=19&ncbi_uid=11110520&link_uid=11110520&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11110520/" class="view">Understanding dentatorubral-pallidoluysian atrophy (DRPLA) symptoms and impacts on daily life: a qualitative interview study with patients and caregivers</a></div><div class="supp"><div class="desc">Marielle G. Contesse, Rebecca J. Woods, Mindy Leffler, Silvia Prades, Julie Greenfield, Andrea Compton, Jeffrey B. Carroll</div><div class="details"><b>Ther Adv Rare Dis</b>. <span class="citation-publication-date">2024 Jan-Dec; </span>5: 26330040241252447. <span class="">Published online 2024 May 20. </span><span class="doi"><span>doi: </span>10.1177/26330040241252447</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11110520</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=19&ncbi_uid=11110520&link_uid=11110520&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11110520/">Article</a><a ref="ordinalpos=19&ncbi_uid=11110520&link_uid=11110520&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11110520/pdf/10.1177_26330040241252447.pdf">PDF–738K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11062078" class="ui-helper-hidden-accessible">Select item 11062078</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="20" type="checkbox" id="UidCheckBox11062078" value="11062078" /><span>20.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=20&ncbi_uid=11062078&link_uid=11062078&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11062078/" class="view">MENA Congress for Rare Diseases Proceedings</a></div><div class="supp"><div class="details"><b>Ther Adv Rare Dis</b>. <span class="citation-publication-date">2024 Jan-Dec; </span>5: 26330040241238936. <span class="">Published online 2024 May 1. </span><span class="doi"><span>doi: </span>10.1177/26330040241238936</span></div><div class="details"><dl><dt class="strong">Correction in: </dt><dd><a ref="ordinalpos=20&ncbi_uid=11062078&link_uid=11062078&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11188692/"><span class="correction-info"><b>Ther Adv Rare Dis</b>. 2024 Jan-Dec; 5: 26330040241264101. </span></a></dd></dl><dl><dt class="strong red">Retraction in: </dt><dd><a ref="ordinalpos=20&ncbi_uid=11062078&link_uid=11062078&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11403550/"><span class="correction-info"><b>Ther Adv Rare Dis</b>. 2024 Jan-Dec; 5: 26330040241280488. </span></a></dd></dl></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11062078</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=20&ncbi_uid=11062078&link_uid=11062078&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11062078/">Article</a></div></div></div></div></div>
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<textarea name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Discovery_SearchDetails.SearchDetailsTerm" sid="1" class="searchdetails_term" cols="30" rows="5" db="pmc">"Ther Adv Rare Dis"[jour]</textarea>
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<div class="ralinkpop offscreen_noflow">Homo sapiens mRNA for wolframin<div class="brieflinkpopdesc">gi|3766440|emb|Y18064.1|</div></div>
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<p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br />
|
||
<a href="https://www.nih.gov/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office" class="text-white">FOIA</a><br />
|
||
<a href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html" class="text-white" id="vdp">HHS Vulnerability Disclosure</a></p>
|
||
</div>
|
||
<div class="col-lg-3 col-12 centered-lg">
|
||
<p><a class="supportLink text-white" href="https://support.nlm.nih.gov/">Help</a><br />
|
||
<a href="https://www.nlm.nih.gov/accessibility.html" class="text-white">Accessibility</a><br />
|
||
<a href="https://www.nlm.nih.gov/careers/careers.html" class="text-white">Careers</a></p>
|
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</div>
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||
</div>
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<div class="row">
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<div class="col-lg-12 centered-lg">
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<nav class="bottom-links">
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<ul class="mt-3">
|
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<li>
|
||
<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
|
||
</li>
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<li>
|
||
<a class="text-white" href="https://www.nih.gov/">NIH</a>
|
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</li>
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<li>
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<a class="text-white" href="https://www.hhs.gov/">HHS</a>
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</li>
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<li>
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<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
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</div>
|
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</section>
|
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<script type="text/javascript" src="/portal/portal3rc.fcgi/static/js/hfjs2.js"> </script>
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