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600 lines
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118 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="books">Books</option><option value="nuccore">Nucleotide</option><option value="sra" class="last">SRA</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=""NPJ Genom Med"[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=86371" 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="1xmEQ4C3OHKo_0CxWYQiW_ZyZ_k2w-w7bbxFgjCkN1" /><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:'%22NPJ%20Genom%20Med%22%5Bjour%5D',qk:'86371',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="UidCheckBox11906642" class="ui-helper-hidden-accessible">Select item 11906642</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="1" type="checkbox" id="UidCheckBox11906642" value="11906642" /><span>1.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=1&ncbi_uid=11906642&link_uid=11906642&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11906642/" class="view">Unraveling <em>MECP2</em> structural variants in previously elusive Rett syndrome cases through IGV interpretation</a></div><div class="supp"><div class="desc">Tomer Poleg, Noam Hadar, Gali Heimer, Vadim Dolgin, Ilana Aminov, Amit Safran, Nadav Agam, Matan M. Jean, Ofek Freund, Simran Kaur, John Christodoulou, Bruria Ben-Zeev, Ohad S. Birk</div><div class="details"><b>NPJ Genom Med</b>. <span class="citation-publication-date">2025; </span>10: 23. <span class="">Published online 2025 Mar 13. </span><span class="doi"><span>doi: </span>10.1038/s41525-025-00481-9</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11906642</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=1&ncbi_uid=11906642&link_uid=11906642&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11906642/">Article</a><a ref="ordinalpos=1&ncbi_uid=11906642&link_uid=11906642&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11906642/pdf/41525_2025_Article_481.pdf">PDF–1.5M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11897170" class="ui-helper-hidden-accessible">Select item 11897170</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="2" type="checkbox" id="UidCheckBox11897170" value="11897170" /><span>2.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=2&ncbi_uid=11897170&link_uid=11897170&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11897170/" class="view">Targeted long-read sequencing enables higher diagnostic yield of ADPKD by accurate <em>PKD1</em> genetic analysis</a></div><div class="supp"><div class="desc">Qian Sun, Peiwen Xu, Aiping Mao, Sexin Huang, Jie Li, Libao Chen, Jing Li, Haopeng Kan, Ju Huang, Wenkai Ji, Dayong Si, Junhao Yan, Zi-Jiang Chen, Xuan Gao, Yuan Gao</div><div class="details"><b>NPJ Genom Med</b>. <span class="citation-publication-date">2025; </span>10: 22. <span class="">Published online 2025 Mar 11. </span><span class="doi"><span>doi: </span>10.1038/s41525-025-00477-5</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11897170</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=2&ncbi_uid=11897170&link_uid=11897170&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11897170/">Article</a><a ref="ordinalpos=2&ncbi_uid=11897170&link_uid=11897170&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11897170/pdf/41525_2025_Article_477.pdf">PDF–2.4M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11889249" class="ui-helper-hidden-accessible">Select item 11889249</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="3" type="checkbox" id="UidCheckBox11889249" value="11889249" /><span>3.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=3&ncbi_uid=11889249&link_uid=11889249&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11889249/" class="view">Discovery of ancestry-specific variants associated with clopidogrel response among Caribbean Hispanics</a></div><div class="supp"><div class="desc">Guang Yang, Pablo González, Mariangeli Moneró, Kelvin Carrasquillo, Jessicca Y. Renta, Dagmar F. Hernandez-Suarez, Mariana R. Botton, Kyle Melin, Stuart A. Scott, Gualberto Ruaño, Abiel Roche-Lima, Cristina Alarcon, Marylyn D. Ritchie, Minoli A. Perera, Jorge Duconge</div><div class="details"><b>NPJ Genom Med</b>. <span class="citation-publication-date">2025; </span>10: 20. <span class="">Published online 2025 Mar 7. </span><span class="doi"><span>doi: </span>10.1038/s41525-025-00479-3</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11889249</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=3&ncbi_uid=11889249&link_uid=11889249&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11889249/">Article</a><a ref="ordinalpos=3&ncbi_uid=11889249&link_uid=11889249&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11889249/pdf/41525_2025_Article_479.pdf">PDF–1.7M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11889135" class="ui-helper-hidden-accessible">Select item 11889135</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="4" type="checkbox" id="UidCheckBox11889135" value="11889135" /><span>4.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=4&ncbi_uid=11889135&link_uid=11889135&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11889135/" class="view">Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort</a></div><div class="supp"><div class="desc">Lieselot Vincke, Kristof Van Schil, Hamid Ahmadieh, Afrooz Moghaddasi, Hamideh Sabbaghi, Narsis Daftarian, Tahmineh Motevasseli, Leila Javanparast Sheykhani, Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi, Julie De Zaeytijd, Marieke De Bruyne, Quinten Mahieu, Ebrahim Al-Hajj, Marta Del Pozo-Valero, Toon Rosseel, Mattias Van Heetvelde, Reza Maroofian, Fatemeh Suri, Miriam Bauwens, Elfride De Baere</div><div class="details"><b>NPJ Genom Med</b>. <span class="citation-publication-date">2025; </span>10: 19. <span class="">Published online 2025 Mar 7. </span><span class="doi"><span>doi: </span>10.1038/s41525-025-00473-9</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11889135</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=4&ncbi_uid=11889135&link_uid=11889135&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11889135/">Article</a><a ref="ordinalpos=4&ncbi_uid=11889135&link_uid=11889135&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11889135/pdf/41525_2025_Article_473.pdf">PDF–1.4M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11885547" class="ui-helper-hidden-accessible">Select item 11885547</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="5" type="checkbox" id="UidCheckBox11885547" value="11885547" /><span>5.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=5&ncbi_uid=11885547&link_uid=11885547&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11885547/" class="view">Understanding rare variant contributions to autism: lessons from dystrophin-deficient model</a></div><div class="supp"><div class="desc">Claudia Ismania Samogy Costa, Luciana Madanelo, Jaqueline Yu Ting Wang, Gabriele da Silva Campos, Ana Cristina De Sanctis Girardi, Marília Scliar, Frederico Monfardini, Rita de Cássia Mingroni Pavanello, Vivian Romanholi Cória, Maria Dulcetti Vibranovski, Ana Cristina Krepischi, Naila Cristina Vilaça Lourenço, Mayana Zatz, Guilherme Lopes Yamamoto, Elaine Cristina Zachi, Maria Rita Passos-Bueno</div><div class="details"><b>NPJ Genom Med</b>. <span class="citation-publication-date">2025; </span>10: 18. <span class="">Published online 2025 Mar 6. </span><span class="doi"><span>doi: </span>10.1038/s41525-025-00469-5</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11885547</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=5&ncbi_uid=11885547&link_uid=11885547&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11885547/">Article</a><a ref="ordinalpos=5&ncbi_uid=11885547&link_uid=11885547&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11885547/pdf/41525_2025_Article_469.pdf">PDF–624K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11871343" class="ui-helper-hidden-accessible">Select item 11871343</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="6" type="checkbox" id="UidCheckBox11871343" value="11871343" /><span>6.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=6&ncbi_uid=11871343&link_uid=11871343&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11871343/" class="view">Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort</a></div><div class="supp"><div class="desc">Sek Won Kong, In-Hee Lee, Lauren V. Collen, Michael Field, Arjun K. Manrai, Scott B. Snapper, Kenneth D. Mandl</div><div class="details"><b>NPJ Genom Med</b>. <span class="citation-publication-date">2025; </span>10: 17. <span class="">Published online 2025 Feb 28. </span><span class="doi"><span>doi: </span>10.1038/s41525-025-00480-w</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11871343</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=6&ncbi_uid=11871343&link_uid=11871343&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11871343/">Article</a><a ref="ordinalpos=6&ncbi_uid=11871343&link_uid=11871343&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11871343/pdf/41525_2025_Article_480.pdf">PDF–1.6M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11868580" class="ui-helper-hidden-accessible">Select item 11868580</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="7" type="checkbox" id="UidCheckBox11868580" value="11868580" /><span>7.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=7&ncbi_uid=11868580&link_uid=11868580&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11868580/" class="view">Insights from the largest diverse ancestry sex-specific disease map for genetically predicted height</a></div><div class="supp"><div class="desc">A. Papadopoulou, E. M. Litkowski, M. Graff, Z. Wang, R. A. J. Smit, G. Chittoor, I. Dinsmore, N. S. Josyula, M. Lin, J. Shortt, W. Zhu, S. L. Vedantam, L. Yengo, A. R. Wood, S. I. Berndt, I. A. Holm, F. D. Mentch, H. Hakonarson, K. Kiryluk, C. Weng, G. P. Jarvik, D. Crosslin, D. Carrell, I. J. Kullo, O. Dikilitas, M. G. Hayes, W. -Q. Wei, D. R. V. Edwards, T. L. Assimes, J. N. Hirschhorn, J. E. Below, C. R. Gignoux, A. E. Justice, R. J. F. Loos, Y. V. Sun, S. Raghavan, P. Deloukas, K. E. North, E. Marouli</div><div class="details"><b>NPJ Genom Med</b>. <span class="citation-publication-date">2025; </span>10: 14. <span class="">Published online 2025 Feb 27. </span><span class="doi"><span>doi: </span>10.1038/s41525-025-00464-w</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11868580</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=7&ncbi_uid=11868580&link_uid=11868580&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11868580/">Article</a><a ref="ordinalpos=7&ncbi_uid=11868580&link_uid=11868580&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11868580/pdf/41525_2025_Article_464.pdf">PDF–1.3M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11845665" class="ui-helper-hidden-accessible">Select item 11845665</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="8" type="checkbox" id="UidCheckBox11845665" value="11845665" /><span>8.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=8&ncbi_uid=11845665&link_uid=11845665&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11845665/" class="view">Identification of cryptic breakpoints through single-tube long fragment read whole genome sequencing based on preimplantation genetic testing</a></div><div class="supp"><div class="desc">Lu Jiang, Zhuoyao Mai, Jiguang Peng, Tao Du, Weifeng Wang, Xiran Chen, Chen Jiang, Yantao Luo, Hui Chen, Lijie Song, Nengyong Ouyang, Chao Chen, Ping Yuan</div><div class="details"><b>NPJ Genom Med</b>. <span class="citation-publication-date">2025; </span>10: 15. <span class="">Published online 2025 Feb 21. </span><span class="doi"><span>doi: </span>10.1038/s41525-025-00471-x</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11845665</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=8&ncbi_uid=11845665&link_uid=11845665&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11845665/">Article</a><a ref="ordinalpos=8&ncbi_uid=11845665&link_uid=11845665&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11845665/pdf/41525_2025_Article_471.pdf">PDF–3.3M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11845629" class="ui-helper-hidden-accessible">Select item 11845629</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="9" type="checkbox" id="UidCheckBox11845629" value="11845629" /><span>9.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=9&ncbi_uid=11845629&link_uid=11845629&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11845629/" class="view">Copy number variant analysis improves diagnostic yield in a diverse pediatric exome sequencing cohort</a></div><div class="supp"><div class="desc">Elan Hahn, Avinash V. Dharmadhikari, Alexander L. Markowitz, Dolores Estrine, Catherine Quindipan, Simran D. S. Maggo, Ankit Sharma, Brian Lee, Dennis T. Maglinte, Soheil Shams, Matthew A. Deardorff, Jaclyn A. Biegel, Xiaowu Gai, Miao Sun, Ryan J. Schmidt, Gordana Raca, Jianling Ji</div><div class="details"><b>NPJ Genom Med</b>. <span class="citation-publication-date">2025; </span>10: 16. <span class="">Published online 2025 Feb 21. </span><span class="doi"><span>doi: </span>10.1038/s41525-025-00478-4</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11845629</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=9&ncbi_uid=11845629&link_uid=11845629&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11845629/">Article</a><a ref="ordinalpos=9&ncbi_uid=11845629&link_uid=11845629&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11845629/pdf/41525_2025_Article_478.pdf">PDF–2.1M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11802722" class="ui-helper-hidden-accessible">Select item 11802722</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="10" type="checkbox" id="UidCheckBox11802722" value="11802722" /><span>10.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=10&ncbi_uid=11802722&link_uid=11802722&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11802722/" class="view">Identification of deep intronic variants in junctional epidermolysis bullosa using genome sequencing and splicing assays</a></div><div class="supp"><div class="desc">Fuying Chen, Ruoqu Wei, Yumeng Wang, Qiaoyu Cao, Jianbo Wang, Chenfei Wang, Dingjin Yao, Zhirong Yao, Cheng Ni, Ming Li</div><div class="details"><b>NPJ Genom Med</b>. <span class="citation-publication-date">2025; </span>10: 8. <span class="">Published online 2025 Feb 6. </span><span class="doi"><span>doi: </span>10.1038/s41525-025-00466-8</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11802722</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=10&ncbi_uid=11802722&link_uid=11802722&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11802722/">Article</a><a ref="ordinalpos=10&ncbi_uid=11802722&link_uid=11802722&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11802722/pdf/41525_2025_Article_466.pdf">PDF–1.7M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11799370" class="ui-helper-hidden-accessible">Select item 11799370</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="11" type="checkbox" id="UidCheckBox11799370" value="11799370" /><span>11.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=11&ncbi_uid=11799370&link_uid=11799370&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11799370/" class="view">Polygenic height prediction for the Han Chinese in Taiwan</a></div><div class="supp"><div class="desc">Chih-Hao Chang, Che-Yu Chou, Timothy G. Raben, Shih-Ann Chen, Yuh-Jyh Jong, Jeng-Yih Wu, Shun-Fa Yang, Hsiang-Cheng Chen, Yen-Lin Chen, Ming Chen, Gwo-Chin Ma, Chih-Yang Huang, Tso-Fu Wang, Sing-Lian Lee, Chen-Fang Hung, See-Tong Pang, Erik Widen, Yao-Ming Chang, Erh-Chan Yeh, Chun-Yu Wei, Chien-Hsiun Chen, Stephen D. H. Hsu, Pui-Yan Kwok</div><div class="details"><b>NPJ Genom Med</b>. <span class="citation-publication-date">2025; </span>10: 7. <span class="">Published online 2025 Feb 5. </span><span class="doi"><span>doi: </span>10.1038/s41525-025-00468-6</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11799370</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=11&ncbi_uid=11799370&link_uid=11799370&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11799370/">Article</a><a ref="ordinalpos=11&ncbi_uid=11799370&link_uid=11799370&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11799370/pdf/41525_2025_Article_468.pdf">PDF–1.7M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11742971" class="ui-helper-hidden-accessible">Select item 11742971</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="12" type="checkbox" id="UidCheckBox11742971" value="11742971" /><span>12.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=12&ncbi_uid=11742971&link_uid=11742971&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11742971/" class="view">Whole genome sequencing completes the molecular genetic testing workflow of patients with Lynch syndrome</a></div><div class="supp"><div class="desc">Klaudia Horti-Oravecz, Anikó Bozsik, Tímea Pócza, Ildikó Vereczkey, Tamás Strausz, Erika Tóth, Tatiana Sedlackova, Diana Rusnakova, Tomas Szemes, István Likó, Edit Oláh, Henriett Butz, Attila Patócs, János Papp, Vince Kornél Grolmusz</div><div class="details"><b>NPJ Genom Med</b>. <span class="citation-publication-date">2025; </span>10: 5. <span class="">Published online 2025 Jan 18. </span><span class="doi"><span>doi: </span>10.1038/s41525-025-00461-z</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11742971</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=12&ncbi_uid=11742971&link_uid=11742971&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11742971/">Article</a><a ref="ordinalpos=12&ncbi_uid=11742971&link_uid=11742971&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11742971/pdf/41525_2025_Article_461.pdf">PDF–2.0M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11739559" class="ui-helper-hidden-accessible">Select item 11739559</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="13" type="checkbox" id="UidCheckBox11739559" value="11739559" /><span>13.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=13&ncbi_uid=11739559&link_uid=11739559&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11739559/" class="view">Germline structural variant as the cause of Lynch Syndrome in a family from Ecuador</a></div><div class="supp"><div class="desc">Gemma Llargués-Sistac, Laia Bonjoch, Jenifer Muñoz, Xavier Domínguez-Rovira, Teresa Ocaña, Maria Isabel Alvarez-Mora, Celia Badenas, Anna Esteve-Codina, Carlos Reyes-Silva, Gabriela Jaramillo-Koupermann, Maria Teresa Rodrigo, Sandra López-Prades, Miriam Cuatrecasas, Antoni Castells, Francesc Balaguer, Leticia Moreira, Guerau Fernandez, Sergi Castellví-Bel</div><div class="details"><b>NPJ Genom Med</b>. <span class="citation-publication-date">2025; </span>10: 3. <span class="">Published online 2025 Jan 17. </span><span class="doi"><span>doi: </span>10.1038/s41525-025-00462-y</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11739559</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=13&ncbi_uid=11739559&link_uid=11739559&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11739559/">Article</a><a ref="ordinalpos=13&ncbi_uid=11739559&link_uid=11739559&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11739559/pdf/41525_2025_Article_462.pdf">PDF–1.4M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11668856" class="ui-helper-hidden-accessible">Select item 11668856</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="14" type="checkbox" id="UidCheckBox11668856" value="11668856" /><span>14.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=14&ncbi_uid=11668856&link_uid=11668856&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11668856/" class="view">Clinical and genetic characterization of patients with late onset Wilson’s disease</a></div><div class="supp"><div class="desc">Wenming Yang, Yue Yang, Han Wang, Jiuxiang Wang, Shijie Zhang</div><div class="details"><b>NPJ Genom Med</b>. <span class="citation-publication-date">2024; </span>9: 71. <span class="">Published online 2024 Dec 24. </span><span class="doi"><span>doi: </span>10.1038/s41525-024-00459-z</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11668856</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=14&ncbi_uid=11668856&link_uid=11668856&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11668856/">Article</a><a ref="ordinalpos=14&ncbi_uid=11668856&link_uid=11668856&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11668856/pdf/41525_2024_Article_459.pdf">PDF–1.3M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11655964" class="ui-helper-hidden-accessible">Select item 11655964</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="15" type="checkbox" id="UidCheckBox11655964" value="11655964" /><span>15.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=15&ncbi_uid=11655964&link_uid=11655964&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11655964/" class="view">Efficient reinterpretation of rare disease cases using Exomiser</a></div><div class="supp"><div class="desc">Letizia Vestito, Julius O. B. Jacobsen, Susan Walker, Valentina Cipriani, Nomi L. Harris, Melissa A. Haendel, Christopher J. Mungall, Peter Robinson, Damian Smedley</div><div class="details"><b>NPJ Genom Med</b>. <span class="citation-publication-date">2024; </span>9: 65. <span class="">Published online 2024 Dec 18. </span><span class="doi"><span>doi: </span>10.1038/s41525-024-00456-2</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11655964</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=15&ncbi_uid=11655964&link_uid=11655964&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11655964/">Article</a><a ref="ordinalpos=15&ncbi_uid=11655964&link_uid=11655964&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11655964/pdf/41525_2024_Article_456.pdf">PDF–742K</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11655636" class="ui-helper-hidden-accessible">Select item 11655636</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="16" type="checkbox" id="UidCheckBox11655636" value="11655636" /><span>16.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=16&ncbi_uid=11655636&link_uid=11655636&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11655636/" class="view">Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes</a></div><div class="supp"><div class="desc">Iftekhar A. Showpnil, Maria E. Hernandez Gonzalez, Swetha Ramadesikan, Mohammad Marhabaie, Allison Daley, Leeran Dublin-Ryan, Matthew T. Pastore, Umamaheswaran Gurusamy, Jesse M. Hunter, Brandon S. Stone, Dennis W. Bartholomew, Kandamurugu Manickam, Anthony R. Miller, Richard K. Wilson, Rolf W. Stottmann, Daniel C. Koboldt</div><div class="details"><b>NPJ Genom Med</b>. <span class="citation-publication-date">2024; </span>9: 66. <span class="">Published online 2024 Dec 18. </span><span class="doi"><span>doi: </span>10.1038/s41525-024-00454-4</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11655636</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=16&ncbi_uid=11655636&link_uid=11655636&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11655636/">Article</a><a ref="ordinalpos=16&ncbi_uid=11655636&link_uid=11655636&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11655636/pdf/41525_2024_Article_454.pdf">PDF–2.5M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11612190" class="ui-helper-hidden-accessible">Select item 11612190</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="17" type="checkbox" id="UidCheckBox11612190" value="11612190" /><span>17.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=17&ncbi_uid=11612190&link_uid=11612190&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11612190/" class="view">Comparative transcriptomic, epigenomic and immunological analyses identify drivers of disparity in high-grade serous ovarian cancer</a></div><div class="supp"><div class="desc">Hao Huang, Russel Keathley, Ujin Kim, Horacio Cardenas, Ping Xie, Jianjun Wei, Ernst Lengyel, Kenneth P. Nephew, Guangyuan Zhao, Zhen Fu, Emma L. Barber, Masha Kocherginsky, Victoria Bae-Jump, Bin Zhang, Daniela Matei</div><div class="details"><b>NPJ Genom Med</b>. <span class="citation-publication-date">2024; </span>9: 64. <span class="">Published online 2024 Dec 2. </span><span class="doi"><span>doi: </span>10.1038/s41525-024-00448-2</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11612190</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=17&ncbi_uid=11612190&link_uid=11612190&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11612190/">Article</a><a ref="ordinalpos=17&ncbi_uid=11612190&link_uid=11612190&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11612190/pdf/41525_2024_Article_448.pdf">PDF–7.5M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11612168" class="ui-helper-hidden-accessible">Select item 11612168</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="18" type="checkbox" id="UidCheckBox11612168" value="11612168" /><span>18.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=18&ncbi_uid=11612168&link_uid=11612168&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11612168/" class="view">Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes</a></div><div class="supp"><div class="desc">Courtney E. French, Nancy C. Andrews, Alan H. Beggs, Philip M. Boone, Catherine A. Brownstein, Maya Chopra, Janet Chou, Wendy K. Chung, Alissa M. D’Gama, Ryan N. Doan, Darius Ebrahimi-Fakhari, Richard D. Goldstein, Mira Irons, Christina Jacobsen, Margaret Kenna, Ted Lee, Jill A. Madden, Amar J. Majmundar, Nina Mann, Sarah U. Morton, Annapurna Poduri, Adrienne G. Randolph, Amy E. Roberts, Stephanie Roberts, Matthew G. Sampson, Diane D. Shao, Wanqing Shao, Aditi Sharma, Eliot Shearer, Akiko Shimamura, Scott B. Snapper, Siddharth Srivastava, Jay R. Thiagarajah, Mary C. Whitman, Monica H. Wojcik, Shira Rockowitz, Piotr Sliz</div><div class="details"><b>NPJ Genom Med</b>. <span class="citation-publication-date">2024; </span>9: 60. <span class="">Published online 2024 Dec 2. </span><span class="doi"><span>doi: </span>10.1038/s41525-024-00441-9</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11612168</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=18&ncbi_uid=11612168&link_uid=11612168&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11612168/">Article</a><a ref="ordinalpos=18&ncbi_uid=11612168&link_uid=11612168&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11612168/pdf/41525_2024_Article_441.pdf">PDF–1.5M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11604660" class="ui-helper-hidden-accessible">Select item 11604660</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="19" type="checkbox" id="UidCheckBox11604660" value="11604660" /><span>19.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=19&ncbi_uid=11604660&link_uid=11604660&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11604660/" class="view">Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases</a></div><div class="supp"><div class="desc">Jong Hyeon Ahn, Jihoon G. Yoon, Jaeso Cho, Seungbok Lee, Sheehyun Kim, Man Jin Kim, Soo Yeon Kim, Soon-Tae Lee, Kon Chu, Sang Kun Lee, Han-Joon Kim, Jinyoung Youn, Ja-Hyun Jang, Jong-Hee Chae, Jangsup Moon, Jin Whan Cho</div><div class="details"><b>NPJ Genom Med</b>. <span class="citation-publication-date">2024; </span>9: 63. <span class="">Published online 2024 Nov 28. </span><span class="doi"><span>doi: </span>10.1038/s41525-024-00449-1</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11604660</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=19&ncbi_uid=11604660&link_uid=11604660&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11604660/">Article</a><a ref="ordinalpos=19&ncbi_uid=11604660&link_uid=11604660&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11604660/pdf/41525_2024_Article_449.pdf">PDF–4.6M</a></div></div></div></div><div class="rprt"><div class="rprtnum"><label for="UidCheckBox11549414" class="ui-helper-hidden-accessible">Select item 11549414</label><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_RVDocSum.uid" sid="20" type="checkbox" id="UidCheckBox11549414" value="11549414" /><span>20.</span></div><div class="rslt"><div class="title"><a ref="ordinalpos=20&ncbi_uid=11549414&link_uid=11549414&linksrc=docsum_title" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11549414/" class="view">Coding and non-coding variants in the ciliopathy gene <em>CFAP410</em> cause early-onset non-syndromic retinal degeneration</a></div><div class="supp"><div class="desc">Riccardo Sangermano, Priya Gupta, Cherrell Price, Jinu Han, Julien Navarro, Christel Condroyer, Emily M. Place, Aline Antonio, Shizuo Mukai, Xavier Zanlonghi, José-Alain Sahel, Stephanie DiTroia, Emily O’Heir, Jacque L. Duncan, Eric A. Pierce, Christina Zeitz, Isabelle Audo, Rachel M. Huckfeldt, Kinga M. Bujakowska</div><div class="details"><b>NPJ Genom Med</b>. <span class="citation-publication-date">2024; </span>9: 58. <span class="">Published online 2024 Nov 8. </span><span class="doi"><span>doi: </span>10.1038/s41525-024-00439-3</span></div></div><div class="aux"><div class="resc"><dl class="rprtid"><dt>PMCID: </dt><dd>PMC11549414</dd></dl></div></div><div class="aux"><div class="links"><a ref="ordinalpos=20&ncbi_uid=11549414&link_uid=11549414&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11549414/">Article</a><a ref="ordinalpos=20&ncbi_uid=11549414&link_uid=11549414&linksrc=docsum_title" class="view" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11549414/pdf/41525_2024_Article_439.pdf">PDF–7.3M</a></div></div></div></div></div>
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</script></h4><div id="send_to_menu2" class="tabPopper send_to"><fieldset><legend>Choose Destination</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.SendTo" sid="11" value="File" id="dest_File2" /><label for="dest_File2">File</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.SendTo" sid="12" value="AddToClipboard" id="dest_AddToClipboard2" /><label for="dest_AddToClipboard2">Clipboard</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.SendTo" sid="13" value="Mail" id="dest_Mail2" /><label for="dest_Mail2">E-mail</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.SendTo" sid="14" value="AddToCollections" id="dest_AddToCollections2" /><label for="dest_AddToCollections2">Collections</label></li></ul></fieldset><div class="submenu file" id="submenu_File2" style="display: none;"><p id="submenu_File_hint2" class="hidden"></p><ul><li><label for="file_format2">Format</label><select id="file_format2" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.FFormat2" sid="101"><option value="DocSum" format="text" selected="selected">Summary (text)</option><option value="MEDLINE" format="text">MEDLINE</option><option value="XML" format="text">XML</option><option value="uilist" format="text">PMCID List</option></select></li><li><label for="file_sort2">Sort by</label><select id="file_sort2" name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.FSort2" sid="51"><option value="" selected="selected">Default order</option><option value="PubDate">Pub Date</option><option value="Journal">Journal</option><option value="PmcLiveDate">PMC Live Date</option></select></li></ul><button name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.SendToSubmit" sid="11" class="button_apply file ncbipopper-close-button" type="submit" cmd="File">Create File</button></div><div class="submenu mail" id="submenu_Mail2" style="display: none;"><p id="email_alert2" class="hidden"></p><ul><li id="email_desc2">Search: "NPJ Genom Med"[jour] </li><li><label for="email_format2">Format</label><select id="email_format2" name="email_format2"><option value="DocSum" selected="selected">Summary</option><option value="DocSum" format="text">Summary (text)</option><option value="MEDLINE" format="text">MEDLINE</option><option value="uilist" format="text">PMCID List</option></select></li><li id="email_sort_option2"><label for="email_sort2">Sort by</label><select id="email_sort2" name="email_sort2"><option value="" selected="selected">Default order</option><option value="PubDate">Pub Date</option><option value="Journal">Journal</option><option value="PmcLiveDate">PMC Live Date</option></select></li><li id="email_count_option2"><label for="email_count2">Number to send</label><select id="email_count2" name="email_count2"><option value="5">5</option><option value="10">10</option><option value="20" selected="selected">20</option><option value="50">50</option><option value="100">100</option></select></li><li id="email_start_option2"><label for="email_start2">Start with item</label><input id="email_start2" name="email_start2" type="text" size="4" value="1" /></li><li><label for="email_address2">E-mail</label><input id="email_address2" value="" name="email_address2" /></li></ul><button name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.SendToSubmit" sid="12" class="button_apply email" type="submit" cmd="Mail" qk="86371">E-mail</button><div><a href="/corehtml/query/MyNCBI/exquery/spam_note.html" onclick="window.open('/corehtml/query/MyNCBI/exquery/spam_note.html','','resizable=yes,scrollbars=yes,toolbar=no,location=no,directories=no,status=no,menubar=no,copyhistory=no,alwaysRaised=yes,depend=yes,top=50,left=200,width=550,height=430');return false;">"SPAM" filtering software notice</a></div></div><div class="submenu addtoclipboard" id="submenu_AddToClipboard2" style="display: none;"><p id="submenu_AddToClipboard_hint2" class="hidden"></p><button name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.SendToSubmit" sid="13" class="button_apply clipboard ncbipopper-close-button" type="submit" cmd="AddToClipboard">Add to Clipboard</button></div><div class="submenu addtocollections" id="submenu_AddToCollections2" style="display: none;"><p id="submenu_AddToCollections_hint2" class="hidden"></p><button name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_DisplayBar.SendToSubmit" sid="14" class="button_apply collections ncbipopper-close-button" type="submit" cmd="AddToCollections">Add to Collections</button></div></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="filters app_msg"><p><strong>Filter your results:</strong></p><ul class="portlet_list"><li class="filter_selected"><a title="Total Results">All (514) </a></li><li><a name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_FilterTab.Filter" filter="nih grants" sid="2" href="#" id="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_FilterTab.Filter">NIH grants (113)</a></li><li><a class="empty_link" title="Embargoed Articles">Embargoed (0)</a></li></ul><ul class="inline_list app_msg_controls"><li><a href="/sites/myncbi/pmc/filters">Manage Filters</a></li></ul><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_FilterTab.CurrFilter" sid="1" type="hidden" value="all" /><input name="EntrezSystem2.PEntrez.PMC.Pmc_ResultsPanel.Pmc_FilterTab.LastFilter" sid="1" type="hidden" value="all" /></div>
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<h3>Find related data</h3>
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<option value="bioproject">BioProject</option>
|
||
<option value="books">Books</option>
|
||
<option value="clinvar">ClinVar</option>
|
||
<option value="cdd">Conserved Domains</option>
|
||
<option value="gap">dbGaP</option>
|
||
<option value="gene">Gene</option>
|
||
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|
||
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|
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|
||
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||
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|
||
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|
||
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|
||
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|
||
<option value="pubmed">PubMed</option>
|
||
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|
||
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<div class="portlet">
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<div class="portlet_head">
|
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<div class="portlet_title">
|
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<h3>Search details</h3>
|
||
</div>
|
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<div class="portlet_content">
|
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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">"NPJ Genom Med"[jour]</textarea>
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<a class="seemore" href="/pmc/details?querykey=86371" ref="log$=details">
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See more...
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||
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<h3>Recent activity</h3>
|
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</div>
|
||
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Clear
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<li>
|
||
<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.nih.gov/">NIH</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
|
||
</li>
|
||
</ul>
|
||
</nav>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</section>
|
||
<script type="text/javascript" src="/portal/portal3rc.fcgi/rlib/js/InstrumentOmnitureBaseJS/InstrumentNCBIConfigJS/InstrumentNCBIBaseJS/InstrumentPageStarterJS.js?v=1"> </script>
|
||
<script type="text/javascript" src="/portal/portal3rc.fcgi/static/js/hfjs2.js"> </script>
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||
</div>
|
||
|
||
</div>
|
||
<div><input name="EntrezSystem2.PEntrez.DbConnector.Db" sid="1" type="hidden" value="pmc" /><input name="EntrezSystem2.PEntrez.DbConnector.LastDb" sid="1" type="hidden" value="pmc" /><input name="EntrezSystem2.PEntrez.DbConnector.Term" sid="1" type="hidden" value=""NPJ Genom Med"[jour]" /><input name="EntrezSystem2.PEntrez.DbConnector.LastTabCmd" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.DbConnector.LastQueryKey" sid="1" type="hidden" value="86371" /><input name="EntrezSystem2.PEntrez.DbConnector.IdsFromResult" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.DbConnector.LastIdsFromResult" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.DbConnector.LinkName" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.DbConnector.LinkReadableName" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.DbConnector.LinkSrcDb" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.DbConnector.Cmd" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.DbConnector.TabCmd" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.DbConnector.QueryKey" sid="1" type="hidden" /></div>
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||
<input type="hidden" name="p$a" id="p$a" /><input type="hidden" name="p$l" id="p$l" value="EntrezSystem2" /><input type="hidden" name="p$st" id="p$st" value="pmc" /><input name="SessionId" id="SessionId" value="CE8BC1E97D9F05E1_0182SID" disabled="disabled" type="hidden" /><input name="Snapshot" id="Snapshot" value="/projects/PMC/PMCEntrez@3.28" disabled="disabled" type="hidden" /></form>
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</div>
|
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</div>
|
||
|
||
|
||
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<script type='text/javascript' src='/portal/js/portal.js'></script><script type="text/javascript" src="//static.pubmed.gov/portal/portal3rc.fcgi/4213537/js/4200673/3812534/4087685/3812535/3781606/4120364/4191189/4080513/4181896/4186313/4191192/3758627/2146917/1053413/3812291/3908752/3423/1997347/3407051/3393413/4076482/31971/2084384/2020969/3924613/3890287/3798707/3397055/4001808.js" snapshot="pmc"></script></body>
|
||
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