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|
||
<a href="/advanced/"
|
||
class="search-input-link adv-search-link"
|
||
data-ga-category="featured_link"
|
||
data-ga-action="adv_search">Advanced</a>
|
||
|
||
|
||
<a href="/clipboard/"
|
||
class="search-input-link clipboard-link hidden"
|
||
data-ga-category="featured_link"
|
||
data-ga-action="clipboard">
|
||
Clipboard <span class="amount-in-clipboard"></span>
|
||
</a>
|
||
</div>
|
||
|
||
<span class="search-input-link user-guide-link" role="navigation" aria-label="User guide">
|
||
<a href="/help/"
|
||
data-ga-category="featured_link"
|
||
data-ga-action="user_guide">
|
||
User Guide
|
||
</a>
|
||
</span>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
|
||
</form>
|
||
|
||
|
||
<div id="article-page-header">
|
||
<div id="article-top-actions-bar" class="article-top-actions-bar">
|
||
<div class="inner-wrap">
|
||
<div class="actions-container">
|
||
<div class="return-to-search">
|
||
|
||
|
||
</div>
|
||
|
||
<div class="multiple-results-actions " role="region" aria-label="save, email, send to">
|
||
<button id="save-results-panel-trigger"
|
||
type="button"
|
||
class="save-results save-results-panel-trigger"
|
||
aria-expanded="false"
|
||
aria-controls="save-action-panel"
|
||
data-ga-category="save_share"
|
||
data-ga-action="save"
|
||
data-ga-label="open">
|
||
Save
|
||
</button><button id="email-results-panel-trigger"
|
||
type="button"
|
||
class="email-results email-results-panel-trigger"
|
||
aria-expanded="false"
|
||
aria-controls="email-action-panel"
|
||
data-ga-category="save_share"
|
||
data-ga-action="email"
|
||
data-ga-label="open">
|
||
Email
|
||
</button><div class="more-actions dropdown-block"><button id="more-actions-trigger"
|
||
type="button"
|
||
class="trigger more-actions-trigger"
|
||
ref="linksrc=show_moreactions_btn"
|
||
aria-label="Send to"
|
||
aria-controls="more-actions-dropdown">Send to</button><div id="more-actions-dropdown" class="dropdown dropdown-container" hidden><div class="content"><ul class="more-actions-links"><li><a class="clipboard-panel-trigger dropdown-block-link "
|
||
href="#"
|
||
role="button"
|
||
data-ga-category="save_share"
|
||
data-ga-action="clipboard"
|
||
data-ga-label="send">
|
||
Clipboard
|
||
</a></li><li><a role="button" class="dropdown-block-link bibliography-trigger-target" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F31388190%2F%23open-bibliography-panel">My Bibliography</a></li><li><a role="button" class="dropdown-block-link collections-trigger-target" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F31388190%2F%23open-collections-panel">Collections</a></li><li><a role="button" class="citation-manager-panel-trigger dropdown-block-link citation-manager-trigger-target" href="#">Citation manager</a></li></ul></div></div></div>
|
||
</div>
|
||
|
||
|
||
|
||
<div class="display-options" data-format-key="format"
|
||
data-default-format-value="abstract"
|
||
data-current-format-value="abstract" role="region">
|
||
<button
|
||
class="trigger usa-button"
|
||
title="Change format"
|
||
data-ga-category="display_options"
|
||
data-ga-action="display_options_dialog">
|
||
<span class="button-label">Display options</span>
|
||
</button>
|
||
|
||
<div class="dropdown" hidden>
|
||
<div class="title">
|
||
Display options
|
||
</div>
|
||
|
||
<div class="content">
|
||
|
||
<div class="format-container">
|
||
<span class="option-label">
|
||
Format
|
||
</span>
|
||
<select name="format" data-initial-value="abstract" aria-label="Display format" id="article-display-format">
|
||
<option value="abstract">Abstract</option>
|
||
|
||
<option value="pubmed">PubMed</option>
|
||
|
||
<option value="pmid">PMID</option>
|
||
|
||
</select>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
</div>
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="RovySvc5mXIGTXzZP70NRWYmVITgtrFb8bfDvlFrWyvaNoFPsqDPl4u0tMBsm2dv">
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="article-panels-container" class="article-panels-container">
|
||
<div id="save-action-panel" class="save-action-panel action-panel" aria-hidden="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Save citation to file
|
||
</h2>
|
||
<form id="save-action-panel-form"
|
||
class="action-panel-content action-form"
|
||
action="/results-export-ids/"
|
||
data-by-search-action="/results-export-search-data/"
|
||
data-by-ids-action="/results-export-ids/"
|
||
method="post"
|
||
data-by-search-method="post"
|
||
data-by-ids-method="post">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="RovySvc5mXIGTXzZP70NRWYmVITgtrFb8bfDvlFrWyvaNoFPsqDPl4u0tMBsm2dv">
|
||
|
||
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="save-action-format" class="action-panel-label">
|
||
Format:
|
||
</label>
|
||
<select id="save-action-format" name="results-format" class="action-panel-selector">
|
||
<option value="summary-text">Summary (text)</option>
|
||
<option value="pubmed-text">PubMed</option>
|
||
<option value="pmid">PMID</option>
|
||
<option value="abstract">Abstract (text)</option>
|
||
<option value="csv">CSV</option>
|
||
</select>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Saving..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="save"
|
||
data-ga-label="save">
|
||
Create file
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Save citations to file' panel"
|
||
ref="linksrc=close_save_panel"
|
||
aria-controls="save-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="save"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div id="email-action-panel"
|
||
class="email-action-panel action-panel"
|
||
aria-hidden="true"
|
||
data-recaptcha-script-url="https://www.recaptcha.net/recaptcha/enterprise.js?render=explicit&onload=onloadCaptchaCallback"
|
||
data-recaptcha-enabled="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Email citation
|
||
</h2>
|
||
<form id="email-action-panel-form"
|
||
class="action-panel-content action-form"
|
||
action="/send-email/"
|
||
data-by-search-action="/results-export-email-by-search-data/"
|
||
data-by-ids-action="/send-email/"
|
||
data-by-search-method="post"
|
||
data-by-ids-method="post"
|
||
method="post"
|
||
>
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="RovySvc5mXIGTXzZP70NRWYmVITgtrFb8bfDvlFrWyvaNoFPsqDPl4u0tMBsm2dv">
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<span class="action-panel-label">
|
||
Subject:
|
||
</span>
|
||
<span class="email-subject" id="email-subject" aria-label="Email subject">1 selected item: 31388190 - PubMed</span>
|
||
<input type="hidden" name="email-subject" value="1 selected item: 31388190"/>
|
||
<input type="hidden" name="email-subject-hash" value="195ceca31871570a32a3c8d918657659e6569fc3cc69cff83418a7ef37f3ab64"/>
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="email-to" class="action-panel-label required-field-asterisk">
|
||
To:
|
||
</label>
|
||
<input type="email" aria-label="Recipient Email Address" placeholder="email@example.com" id="email-to" class="email-to" pattern="^[a-zA-Z0-9_.+-]+@[a-zA-Z0-9-]+\.[a-zA-Z0-9-.]+$" maxlength="100" required>
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="email-from" class="action-panel-label">
|
||
From:
|
||
</label>
|
||
<input type="email" aria-label="Sender Email Address" placeholder="email@example.com" id="email-from" class="email-from" pattern="^[a-zA-Z0-9_.+-]+@[a-zA-Z0-9-]+\.[a-zA-Z0-9-.]+$" maxlength="256">
|
||
</div>
|
||
|
||
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="email-citation-format" class="action-panel-label">
|
||
Format:
|
||
</label>
|
||
<select id="email-citation-format" name="citation-format" class="action-panel-selector email-citation-format">
|
||
<option selected="selected" value="summary">Summary</option>
|
||
<option value="summary-text">Summary (text)</option>
|
||
<option value="abstract">Abstract</option>
|
||
<option value="abstract-text">Abstract (text)</option>
|
||
|
||
</select>
|
||
</div>
|
||
<div class="include-supplemental-container">
|
||
<input type="checkbox" aria-label="Include MeSH and other data" name="include-supplemental" id="email-include-supplemental" class="email-include-supplemental">
|
||
<label for="email-include-supplemental" class="email-include-supplemental-label">MeSH and other data</label>
|
||
</div>
|
||
|
||
|
||
|
||
<div class="form-field recaptcha ">
|
||
|
||
|
||
|
||
<div class="g-recaptcha" id="id-recaptcha" data-sitekey="6LfsWHMdAAAAAClKbtOpjQ2pMjgsGxvv7NdZW9uI"></div>
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
<div id="captcha-error-message" class="usa-input-error-message captcha-validation-message" role="alert"></div>
|
||
|
||
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Sending..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="email"
|
||
data-ga-label="send">
|
||
Send email
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Email citations' panel"
|
||
ref="linksrc=close_email_panel"
|
||
aria-controls="email-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="email"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
<input type="hidden" name="email-search-details" value="" />
|
||
<input type="hidden" name="email-search-details-hash" value="0e42663a6c3bd85498fcb88798998fed7bfdc45d457db35281e41afe13cc0524" />
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="collections-action-panel"
|
||
class="collections-action-panel action-panel in-progress-dots-panel"
|
||
aria-hidden="true"
|
||
data-collections-open-panel-enabled="false"
|
||
data-collections-open-panel-url-hash="#open-collections-panel">
|
||
<div class="inner-wrap">
|
||
<h3 class="action-panel-heading">
|
||
Add to Collections
|
||
</h3>
|
||
|
||
|
||
<form id="collections-action-panel-form"
|
||
class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
|
||
data-existing-collections-url="/list-existing-collections/"
|
||
data-add-to-existing-collection-url="/add-to-existing-collection/"
|
||
data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/"
|
||
data-get-article-ids-by-search-url="/get-article-ids-by-search/"
|
||
data-myncbi-max-collection-name-length="100"
|
||
data-add-to-collection-max-amount="1000"
|
||
data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="RovySvc5mXIGTXzZP70NRWYmVITgtrFb8bfDvlFrWyvaNoFPsqDPl4u0tMBsm2dv">
|
||
|
||
|
||
|
||
<div class="choice-group" role="radiogroup">
|
||
<ul class="radio-group-items">
|
||
<li>
|
||
<input type="radio"
|
||
id="collections-action-panel-new"
|
||
class="collections-new"
|
||
name="collections"
|
||
value="new"
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="collections_radio_new">
|
||
<label for="collections-action-panel-new">Create a new collection</label>
|
||
</li>
|
||
<li>
|
||
<input type="radio"
|
||
id="collections-action-panel-existing"
|
||
class="collections-existing"
|
||
name="collections"
|
||
value="existing"
|
||
checked="true"
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="collections_radio_existing">
|
||
<label for="collections-action-panel-existing">Add to an existing collection</label>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
|
||
<div class="controls-wrapper">
|
||
<div class="action-panel-control-wrap new-collections-controls">
|
||
<label for="collections-action-panel-add-to-new" class="action-panel-label required-field-asterisk">
|
||
Name your collection:
|
||
</label>
|
||
<input
|
||
type="text"
|
||
name="add-to-new-collection"
|
||
id="collections-action-panel-add-to-new"
|
||
class="collections-action-add-to-new"
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/"
|
||
maxlength="100"
|
||
data-ga-category="save_share"
|
||
data-ga-action="create_collection"
|
||
data-ga-label="non_favorties_collection">
|
||
<div class="collections-new-name-too-long usa-input-error-message selection-validation-message">
|
||
Name must be less than 100 characters
|
||
</div>
|
||
</div>
|
||
<div class="action-panel-control-wrap existing-collections-controls">
|
||
<label for="collections-action-panel-add-to-existing" class="action-panel-label">
|
||
Choose a collection:
|
||
</label>
|
||
<select id="collections-action-panel-add-to-existing"
|
||
class="action-panel-selector collections-action-add-to-existing"
|
||
data-ga-category="save_share"
|
||
data-ga-action="select_collection"
|
||
data-ga-label="($('#collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'">
|
||
</select>
|
||
<div class="collections-retry-load-on-error usa-input-error-message selection-validation-message">
|
||
Unable to load your collection due to an error<br>
|
||
<a href="#">Please try again</a>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Adding..."
|
||
data-pinger-ignore
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="add">
|
||
Add
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Add to Collections' panel"
|
||
ref="linksrc=close_collections_panel"
|
||
aria-controls="collections-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="bibliography-action-panel"
|
||
class="bibliography-action-panel action-panel in-progress-dots-panel"
|
||
aria-hidden="true"
|
||
data-bibliography-open-panel-enabled="false"
|
||
data-bibliography-open-panel-url-hash="#open-bibliography-panel">
|
||
<div class="inner-wrap">
|
||
<h3 class="action-panel-heading">
|
||
Add to My Bibliography
|
||
</h3>
|
||
<form id="bibliography-action-panel-form"
|
||
class="bibliography-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
|
||
data-add-to-bibliography-max-amount="100"
|
||
data-add-to-bibliography-batch-size="10"
|
||
data-bibliography-delegates-url="/list-bibliography-delegates/"
|
||
data-add-to-bibliography-url="/add-to-bibliography/"
|
||
data-get-article-ids-by-search-url="/get-article-ids-by-search/"
|
||
data-mybib-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/mybibliography/">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="RovySvc5mXIGTXzZP70NRWYmVITgtrFb8bfDvlFrWyvaNoFPsqDPl4u0tMBsm2dv">
|
||
|
||
|
||
|
||
<div class="action-panel-control-wrap bibliographies-controls">
|
||
<div class="choice-group">
|
||
<ul class="bibliographies-action-add radio-group-items">
|
||
<li>
|
||
<input name="bibliography" id="my-bibliography" class="my-bibliography" type="radio" checked/>
|
||
<label for="my-bibliography">My Bibliography</label>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="bibliographies-retry-load-on-error usa-input-error-message selection-validation-message">
|
||
Unable to load your delegates due to an error<br>
|
||
<a href="#">Please try again</a>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Adding..."
|
||
data-pinger-ignore>
|
||
Add
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Add to bibliography' panel"
|
||
ref="linksrc=close_bibliography_panel"
|
||
aria-controls="bibliography-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="mybib"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div id="saved-search-action-panel" class="saved-search-action-panel action-panel " aria-hidden="true"
|
||
data-saved-search-open-panel-enabled="false"
|
||
data-saved-search-open-panel-url-hash="#open-saved-search-panel">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Your saved search
|
||
</h2>
|
||
|
||
<form id="saved-search-action-panel-form"
|
||
class="saved-search-action-panel-form action-panel-content action-form"
|
||
data-create-saved-search-url="/create-saved-search/"
|
||
data-try-search-terms-url="/try-search-term/"
|
||
data-saved-search-root-url="https://www.ncbi.nlm.nih.gov/myncbi/searches/">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="RovySvc5mXIGTXzZP70NRWYmVITgtrFb8bfDvlFrWyvaNoFPsqDPl4u0tMBsm2dv">
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-name" class="action-panel-label saved-search-name-label required-field-asterisk">
|
||
Name of saved search:
|
||
</label>
|
||
<input maxlength="200"
|
||
type="text"
|
||
name="saved-search-name"
|
||
id="saved-search-name"
|
||
class="saved-search-name"
|
||
value=""
|
||
required
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/">
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-term" class="action-panel-label required-field-asterisk">
|
||
Search terms:
|
||
</label>
|
||
<textarea name="saved-search-term" id="saved-search-term" class="saved-search-term" required></textarea>
|
||
</div>
|
||
<div class="test-search-term-wrap">
|
||
<a href="#" class="try-search-term">Test search terms</a>
|
||
</div>
|
||
<div class="choice-group action-panel-extra-margin-top">
|
||
<span class="action-panel-label" id="fieldset-label">
|
||
Would you like email updates of new search results?
|
||
</span>
|
||
<fieldset id="saved-search-alert" aria-describedby="fieldset-label">
|
||
<legend class="usa-sr-only">Saved Search Alert Radio Buttons</legend>
|
||
<ul class="radio-group-items">
|
||
<li>
|
||
<input type="radio" id="saved-search-alert-yes" class="saved-search-alert-yes" name="saved-search-alert" value="yes" checked>
|
||
<label for="saved-search-alert-yes" class="action-panel-label">Yes</label>
|
||
</li>
|
||
<li>
|
||
<input aria-label="No radio input" type="radio" id="saved-search-alert-no" class="saved-search-alert-no" name="saved-search-alert" value="no">
|
||
<label for="saved-search-alert-no" class="action-panel-label">No</label>
|
||
</li>
|
||
</ul>
|
||
</fieldset>
|
||
</div>
|
||
|
||
<div class="alert-schedule-wrap">
|
||
<div class="action-panel-control-wrap">
|
||
<label class="action-panel-label">
|
||
Email:
|
||
</label>
|
||
<span aria-label="Email address" id="saved-search-email" class="action-panel-label"><span class="action-panel-label-bold"></span> (<a class="myncbi-account-settings" href="https://www.ncbi.nlm.nih.gov/account/settings/">change</a>)</span>
|
||
</div>
|
||
<div class="action-panel-control-wrap action-panel-extra-margin-top">
|
||
<label for="saved-search-frequency" class="action-panel-label">
|
||
Frequency:
|
||
</label>
|
||
<select id="saved-search-frequency" class="no-border-panel-selector saved-search-frequency">
|
||
<option value="monthly">Monthly</option>
|
||
<option value="weekly">Weekly</option>
|
||
<option value="daily">Daily</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap saved-search-monthly-additional">
|
||
<label for="saved-search-monthly-on-day" class="action-panel-label">
|
||
Which day?
|
||
</label>
|
||
<select id="saved-search-monthly-on-day" class="no-border-panel-selector">
|
||
<option value="Sunday">The first Sunday</option>
|
||
<option value="Monday">The first Monday</option>
|
||
<option value="Tuesday">The first Tuesday</option>
|
||
<option value="Wednesday">The first Wednesday</option>
|
||
<option value="Thursday">The first Thursday</option>
|
||
<option value="Friday">The first Friday</option>
|
||
<option value="Saturday">The first Saturday</option>
|
||
<option value="day">The first day</option>
|
||
<option value="weekday">The first weekday</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap saved-search-weekly-additional">
|
||
<label for="saved-search-weekly-on-day" class="action-panel-label">
|
||
Which day?
|
||
</label>
|
||
<select id="saved-search-weekly-on-day" class="no-border-panel-selector saved-search-weekly-on-day">
|
||
<option value="Sunday">Sunday</option>
|
||
<option value="Monday">Monday</option>
|
||
<option value="Tuesday">Tuesday</option>
|
||
<option value="Wednesday">Wednesday</option>
|
||
<option value="Thursday">Thursday</option>
|
||
<option value="Friday">Friday</option>
|
||
<option value="Saturday">Saturday</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-report" class="action-panel-label">
|
||
Report format:
|
||
</label>
|
||
<select id="saved-search-report" class="no-border-panel-selector saved-search-report">
|
||
<option value="DocSum">Summary</option>
|
||
<option value="DocSumText">Summary (text)</option>
|
||
<option value="Abstract">Abstract</option>
|
||
<option value="AbstractText">Abstract (text)</option>
|
||
<option value="MEDLINE">PubMed</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-amount" class="action-panel-label">
|
||
Send at most:
|
||
</label>
|
||
<select id="saved-search-amount" class="no-border-panel-selector saved-search-amount">
|
||
<option value="1">1 item</option>
|
||
<option value="5" selected>5 items</option>
|
||
<option value="10">10 items</option>
|
||
<option value="20">20 items</option>
|
||
<option value="50">50 items</option>
|
||
<option value="100">100 items</option>
|
||
<option value="200">200 items</option>
|
||
</select>
|
||
</div>
|
||
<div>
|
||
<input type="checkbox" id="saved-search-send-if-no-result" class="saved-search-send-if-no-result" name="saved-search-send-if-no-result">
|
||
<label for="saved-search-send-if-no-result" class="action-panel-label smaller-checkbox">
|
||
Send even when there aren't any new results
|
||
</label>
|
||
</div>
|
||
<div class="action-panel-control-wrap option-text-in-email-wrap">
|
||
<label for="saved-search-email-text" class="action-panel-label">
|
||
Optional text in email:
|
||
</label>
|
||
<textarea name="saved-search-email-text"
|
||
id="saved-search-email-text"
|
||
class="saved-search-email-text"></textarea>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Saving..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="save">
|
||
Save
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Your saved search' panel"
|
||
ref="linksrc=close_saved_search_panel"
|
||
aria-controls="saved-search-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="citation-manager-action-panel" class="citation-manager-action-panel action-panel" aria-hidden="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Create a file for external citation management software
|
||
</h2>
|
||
<form id="citation-manager-action-panel-form"
|
||
class="action-panel-content action-form"
|
||
action="/results-export-ids/"
|
||
data-by-search-action="/results-export-search-data/"
|
||
data-by-ids-action="/results-export-ids/"
|
||
method="post"
|
||
data-by-search-method="post"
|
||
data-by-ids-method="post">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="RovySvc5mXIGTXzZP70NRWYmVITgtrFb8bfDvlFrWyvaNoFPsqDPl4u0tMBsm2dv">
|
||
|
||
|
||
|
||
<input name="results-format" type="hidden" value="pubmed"/>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Sending..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="citation_manager"
|
||
data-ga-label="save">
|
||
Create file
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Send citations to citation manager' panel"
|
||
ref="linksrc=close_citation_manager_panel"
|
||
aria-controls="citation-manager-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="citation_manager"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div id="rss-action-panel" class="rss-action-panel action-panel " aria-hidden="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Your RSS Feed
|
||
</h2>
|
||
|
||
<form id="rss-action-panel-form"
|
||
class="rss-action-panel-form action-panel-content action-form"
|
||
data-create-rss-feed-url="/create-rss-feed-url/"
|
||
data-search-form-term-value="">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="RovySvc5mXIGTXzZP70NRWYmVITgtrFb8bfDvlFrWyvaNoFPsqDPl4u0tMBsm2dv">
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="rss-name" class="action-panel-label required-field-asterisk">
|
||
Name of RSS Feed:
|
||
</label>
|
||
<input maxlength="200"
|
||
placeholder="Name"
|
||
type="text"
|
||
name="rss-name"
|
||
id="rss-name"
|
||
class="rss-name"
|
||
value=''
|
||
required
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/">
|
||
</div>
|
||
|
||
<div class="rss-limit-wrap">
|
||
<div class="action-panel-control-wrap action-panel-extra-margin-top">
|
||
<label for="rss-limit" class="action-panel-label">
|
||
Number of items displayed:
|
||
</label>
|
||
<select id="rss-limit" class="no-border-panel-selector rss-limit">
|
||
<option value="5">5</option>
|
||
<option value="10">10</option>
|
||
<option value="15" selected="selected">15</option>
|
||
<option value="20">20</option>
|
||
<option value="50">50</option>
|
||
<option value="100">100</option>
|
||
</select>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Creating..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="save">
|
||
Create RSS
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Your RSS' panel"
|
||
ref="linksrc=close_rss_panel"
|
||
aria-controls="rss-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap rss-link-copy-wrap">
|
||
<label for="rss-link" class="usa-sr-only">RSS Link</label>
|
||
<input placeholder="Your RSS Feed Link" type="text" name="rss-link" id="rss-link" class="rss-link" title="RSS Link">
|
||
<button
|
||
type="button"
|
||
disabled
|
||
class="rss-link-copy-button disabled"
|
||
data-ga-category="save_share"
|
||
data-ga-action="rss"
|
||
data-ga-label="copy">
|
||
Copy
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="article-page" id="article-page" data-article-pmid="31388190">
|
||
<aside class="page-sidebar">
|
||
<div class="inner-wrap">
|
||
|
||
<div class="full-text-links">
|
||
<div class="full-view">
|
||
<h3 class="title">
|
||
Full text links
|
||
</h3>
|
||
<div class="full-text-links-list">
|
||
<a class="link-item
|
||
|
||
dialog-focus"
|
||
href="https://linkinghub.elsevier.com/retrieve/pii/S1098-3600(21)01272-7"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=False&PrId=3048&itool=Abstract-def&log$=linkouticon&uid=31388190&db=pubmed&nlmid=9815831"
|
||
title="See full text options at Elsevier Science"
|
||
|
||
data-ga-category="full_text"
|
||
data-ga-action="Elsevier Science"
|
||
data-ga-label="31388190"
|
||
><img src="https://cdn.ncbi.nlm.nih.gov/corehtml/query/egifs/https:--linkinghub.elsevier.com-ihub-images-elsevieroa.png" alt="Elsevier Science full text link"><span class="text">
|
||
|
||
Elsevier Science
|
||
|
||
</span></a><a class="link-item
|
||
pmc
|
||
"
|
||
href="https://pmc.ncbi.nlm.nih.gov/articles/pmid/31388190/"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=True&PrId=3494&itool=Abstract-def&log$=linkouticon&uid=31388190&db=pubmed&nlmid=9815831"
|
||
title="Free full text at PubMed Central"
|
||
|
||
data-ga-category="full_text"
|
||
data-ga-action="PMC"
|
||
data-ga-label="31388190"
|
||
><span class="text">
|
||
|
||
Free PMC article
|
||
|
||
</span></a>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
<div class="short-view">
|
||
<a href="#" class="full-text-links-button full-text-links-dialog-trigger">
|
||
Full text links
|
||
</a>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div class="actions-buttons sidebar"><h3 class="title">Actions</h3><div class="inner-wrap"><button class="citation-button citation-dialog-trigger"
|
||
aria-label="Open dialog with citation text in different styles"
|
||
data-ga-category="save_share"
|
||
data-ga-action="cite"
|
||
data-ga-label="open"
|
||
data-all-citations-url="/31388190/citations/"
|
||
data-citation-style="nlm"
|
||
data-pubmed-format-link="/31388190/export/"><span class="button-label">Cite</span></button><link type="text/css" href="ncbi-overlay-block/src/overlay-block.css"><div class="collections-button-container" data-article-id="31388190" data-article-db="pubmed"><button class="collections-button collections-dialog-trigger"
|
||
aria-label="Save article in MyNCBI collections."
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_button"
|
||
data-collections-open-dialog-enabled="false"
|
||
data-collections-open-dialog-url="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F31388190%2F%23open-collections-dialog"
|
||
data-in-collections="false"><span class="button-label">Collections</span></button><div class="overlay" role="dialog"><div id="collections-action-dialog"
|
||
class="dialog collections-dialog"
|
||
aria-hidden="true"><div class="title">Add to Collections</div><div class="collections-action-panel action-panel"><form id="collections-action-dialog-form"
|
||
class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
|
||
data-existing-collections-url="/list-existing-collections/"
|
||
data-add-to-existing-collection-url="/add-to-existing-collection/"
|
||
data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/"
|
||
data-myncbi-max-collection-name-length="100"
|
||
data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/"><input type="hidden" name="csrfmiddlewaretoken" value="RovySvc5mXIGTXzZP70NRWYmVITgtrFb8bfDvlFrWyvaNoFPsqDPl4u0tMBsm2dv"><div class="choice-group" role="radiogroup"><ul class="radio-group-items"><li><input type="radio"
|
||
id="collections-action-dialog-new"
|
||
class="collections-new"
|
||
name="collections"
|
||
value="new"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_radio_new"><label for="collections-action-dialog-new">Create a new collection</label></li><li><input type="radio"
|
||
id="collections-action-dialog-existing"
|
||
class="collections-existing"
|
||
name="collections"
|
||
value="existing"
|
||
checked="true"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_radio_existing"><label for="collections-action-dialog-existing">Add to an existing collection</label></li></ul></div><div class="controls-wrapper"><div class="action-panel-control-wrap new-collections-controls"><label for="collections-action-dialog-add-to-new" class="action-panel-label required-field-asterisk">
|
||
Name your collection:
|
||
</label><input
|
||
type="text"
|
||
name="add-to-new-collection"
|
||
id="collections-action-dialog-add-to-new"
|
||
class="collections-action-add-to-new"
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/"
|
||
maxlength="100"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="create_collection"
|
||
data-ga-label="non_favorties_collection"><div class="collections-new-name-too-long usa-input-error-message selection-validation-message">
|
||
Name must be less than 100 characters
|
||
</div></div><div class="action-panel-control-wrap existing-collections-controls"><label for="collections-action-dialog-add-to-existing" class="action-panel-label">
|
||
Choose a collection:
|
||
</label><select id="collections-action-dialog-add-to-existing"
|
||
class="action-panel-selector collections-action-add-to-existing"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="select_collection"
|
||
data-ga-label="($('.collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'"></select><div class="collections-retry-load-on-error usa-input-error-message selection-validation-message">
|
||
Unable to load your collection due to an error<br><a href="#">Please try again</a></div></div></div><div class="action-panel-actions"><button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Adding..."
|
||
data-pinger-ignore
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="add">
|
||
Add
|
||
</button><button class="action-panel-cancel"
|
||
aria-label="Close 'Add to Collections' panel"
|
||
ref="linksrc=close_collections_panel"
|
||
aria-controls="collections-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button></div></form></div></div></div></div><button class="more-actions-button more-actions-dialog-trigger"
|
||
title="Open dialog with more actions to take"
|
||
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The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis
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data-ga-label="Solveig Heide">Solveig Heide</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="AP-HP, Département de Génétique, Centre de Référence Maladies Rares "Anomalies du développement et syndromes malformatifs" Hôpital de la Pitié Salpêtrière, Paris, France." href="#full-view-affiliation-9" ref="linksrc=author_aff">
|
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9
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Keren+B&cauthor_id=31388190"
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data-ga-label="Boris Keren">Boris Keren</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="AP-HP, Département de Génétique, Centre de Référence Maladies Rares "Anomalies du développement et syndromes malformatifs" Hôpital de la Pitié Salpêtrière, Paris, France." href="#full-view-affiliation-9" ref="linksrc=author_aff">
|
||
9
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Terhal+P&cauthor_id=31388190"
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data-ga-label="Pauline Terhal">Pauline Terhal</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, Utrecht University Medical Center, Utrecht, the Netherlands." href="#full-view-affiliation-10" ref="linksrc=author_aff">
|
||
10
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Irving+M&cauthor_id=31388190"
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data-ga-label="Melita Irving">Melita Irving</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Genetics, Guy's Hospital, London, UK." href="#full-view-affiliation-11" ref="linksrc=author_aff">
|
||
11
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Takaku+M&cauthor_id=31388190"
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data-ga-label="Motoki Takaku">Motoki Takaku</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Epigenetics and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA." href="#full-view-affiliation-2" ref="linksrc=author_aff">
|
||
2
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Roberts+JD&cauthor_id=31388190"
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data-ga-label="John D Roberts">John D Roberts</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Epigenetics and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA." href="#full-view-affiliation-2" ref="linksrc=author_aff">
|
||
2
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Petrovich+RM&cauthor_id=31388190"
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data-ga-label="Robert M Petrovich">Robert M Petrovich</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Epigenetics and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA." href="#full-view-affiliation-2" ref="linksrc=author_aff">
|
||
2
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Schrier+Vergano+SA&cauthor_id=31388190"
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data-ga-label="Samantha A Schrier Vergano">Samantha A Schrier Vergano</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA." href="#full-view-affiliation-12" ref="linksrc=author_aff">
|
||
12
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Eastern Virginia Medical School, Norfolk, VA, USA." href="#full-view-affiliation-13" ref="linksrc=author_aff">
|
||
13
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Kenney+A&cauthor_id=31388190"
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data-ga-label="Amy Kenney">Amy Kenney</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA." href="#full-view-affiliation-12" ref="linksrc=author_aff">
|
||
12
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Hove+H&cauthor_id=31388190"
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data-ga-label="Hanne Hove">Hanne Hove</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre for Rare Diseases, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark." href="#full-view-affiliation-14" ref="linksrc=author_aff">
|
||
14
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=DeChene+E&cauthor_id=31388190"
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data-ga-label="Elizabeth DeChene">Elizabeth DeChene</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA." href="#full-view-affiliation-15" ref="linksrc=author_aff">
|
||
15
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Quinonez+SC&cauthor_id=31388190"
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data-ga-label="Shane C Quinonez">Shane C Quinonez</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Division of Genetics, Metabolism and Genomic Medicine, University of Michigan, Ann Arbor, MI, USA." href="#full-view-affiliation-16" ref="linksrc=author_aff">
|
||
16
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Colin+E&cauthor_id=31388190"
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data-ga-label="Estelle Colin">Estelle Colin</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Biochemistry and Genetics, University Hospital Angers, Angers, France." href="#full-view-affiliation-17" ref="linksrc=author_aff">
|
||
17
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Ziegler+A&cauthor_id=31388190"
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data-ga-label="Alban Ziegler">Alban Ziegler</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Biochemistry and Genetics, University Hospital Angers, Angers, France." href="#full-view-affiliation-17" ref="linksrc=author_aff">
|
||
17
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Rumple+M&cauthor_id=31388190"
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data-ga-label="Melissa Rumple">Melissa Rumple</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Banner Child Neurology, Glendale, AZ, USA." href="#full-view-affiliation-18" ref="linksrc=author_aff">
|
||
18
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Jain+M&cauthor_id=31388190"
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data-ga-label="Mahim Jain">Mahim Jain</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA." href="#full-view-affiliation-5" ref="linksrc=author_aff">
|
||
5
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Bone and Osteogenesis Imperfecta Department, Kennedy Krieger Institute, Baltimore, MD, USA." href="#full-view-affiliation-19" ref="linksrc=author_aff">
|
||
19
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Monteil+D&cauthor_id=31388190"
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data-ga-label="Danielle Monteil">Danielle Monteil</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Naval Medical Center Portsmouth, Portsmouth, VA, USA." href="#full-view-affiliation-20" ref="linksrc=author_aff">
|
||
20
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Roeder+ER&cauthor_id=31388190"
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data-ga-label="Elizabeth R Roeder">Elizabeth R Roeder</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Departments of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, San Antonio, TX, USA." href="#full-view-affiliation-21" ref="linksrc=author_aff">
|
||
21
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Nugent+K&cauthor_id=31388190"
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data-ga-label="Kimberly Nugent">Kimberly Nugent</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Departments of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, San Antonio, TX, USA." href="#full-view-affiliation-21" ref="linksrc=author_aff">
|
||
21
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=van+Haeringen+A&cauthor_id=31388190"
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data-ga-label="Arie van Haeringen">Arie van Haeringen</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands." href="#full-view-affiliation-22" ref="linksrc=author_aff">
|
||
22
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Gambello+M&cauthor_id=31388190"
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data-ga-label="Michael Gambello">Michael Gambello</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA, USA." href="#full-view-affiliation-23" ref="linksrc=author_aff">
|
||
23
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Santani+A&cauthor_id=31388190"
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data-ga-label="Avni Santani">Avni Santani</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA." href="#full-view-affiliation-15" ref="linksrc=author_aff">
|
||
15
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Medne+L&cauthor_id=31388190"
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data-ga-label="Līvija Medne">Līvija Medne</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA." href="#full-view-affiliation-24" ref="linksrc=author_aff">
|
||
24
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Krock+B&cauthor_id=31388190"
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data-ga-label="Bryan Krock">Bryan Krock</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA." href="#full-view-affiliation-15" ref="linksrc=author_aff">
|
||
15
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Skraban+CM&cauthor_id=31388190"
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data-ga-label="Cara M Skraban">Cara M Skraban</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA." href="#full-view-affiliation-24" ref="linksrc=author_aff">
|
||
24
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Zackai+EH&cauthor_id=31388190"
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data-ga-label="Elaine H Zackai">Elaine H Zackai</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA." href="#full-view-affiliation-24" ref="linksrc=author_aff">
|
||
24
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Dubbs+HA&cauthor_id=31388190"
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data-ga-label="Holly A Dubbs">Holly A Dubbs</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA." href="#full-view-affiliation-25" ref="linksrc=author_aff">
|
||
25
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||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Smol+T&cauthor_id=31388190"
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data-ga-label="Thomas Smol">Thomas Smol</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Genetics, Lille University Hospital, CHU Lille, Lille, France." href="#full-view-affiliation-26" ref="linksrc=author_aff">
|
||
26
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="EA7364 RADEME (Research Team on Rare Developmental and Metabolic Diseases), Lille 2 University, Lille, France." href="#full-view-affiliation-27" ref="linksrc=author_aff">
|
||
27
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Ghoumid+J&cauthor_id=31388190"
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data-ga-label="Jamal Ghoumid">Jamal Ghoumid</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Genetics, Lille University Hospital, CHU Lille, Lille, France." href="#full-view-affiliation-26" ref="linksrc=author_aff">
|
||
26
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="EA7364 RADEME (Research Team on Rare Developmental and Metabolic Diseases), Lille 2 University, Lille, France." href="#full-view-affiliation-27" ref="linksrc=author_aff">
|
||
27
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Parker+MJ&cauthor_id=31388190"
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data-ga-label="Michael J Parker">Michael J Parker</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield, UK." href="#full-view-affiliation-28" ref="linksrc=author_aff">
|
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28
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Wright+M&cauthor_id=31388190"
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data-ga-label="Michael Wright">Michael Wright</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Northern Genetics Service, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Institute of Human Genetics, International Centre for Life, Newcastle upon Tyne, UK." href="#full-view-affiliation-29" ref="linksrc=author_aff">
|
||
29
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||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Turnpenny+P&cauthor_id=31388190"
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data-ga-label="Peter Turnpenny">Peter Turnpenny</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="University of Exeter Medical School, Clinical Genetics Royal Devon & Exeter Hospital, Exeter, UK." href="#full-view-affiliation-30" ref="linksrc=author_aff">
|
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30
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||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Clayton-Smith+J&cauthor_id=31388190"
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data-ga-label="Jill Clayton-Smith">Jill Clayton-Smith</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute of Evolution, Systems and Genomics, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK." href="#full-view-affiliation-31" ref="linksrc=author_aff">
|
||
31
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, UK." href="#full-view-affiliation-32" ref="linksrc=author_aff">
|
||
32
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||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Metcalfe+K&cauthor_id=31388190"
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data-ga-label="Kay Metcalfe">Kay Metcalfe</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute of Evolution, Systems and Genomics, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK." href="#full-view-affiliation-31" ref="linksrc=author_aff">
|
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31
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, UK." href="#full-view-affiliation-32" ref="linksrc=author_aff">
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32
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33
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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|
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34
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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|
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3
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel." href="#full-view-affiliation-4" ref="linksrc=author_aff">
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4
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|
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35
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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|
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5
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Paul A Wade">Paul A Wade</a><sup class="equal-contrib-container"><span class="author-sup-separator"> </span><a class="equal-contrib" title="Contributed equally" href="#full-view-equal-contrib-explanation" ref="linksrc=author_equal_contrib">#</a></sup><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Epigenetics and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA." href="#full-view-affiliation-2" ref="linksrc=author_aff">
|
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2
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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|
||
36
|
||
</a></sup></span>
|
||
</div>
|
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</div>
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Affiliations
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><sup class="key">1</sup> The Genetics Institute, Rambam Health Care Campus, Haifa, Israel. k_weiss@rambam.health.gov.il.</li>
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<li data-affiliation-id="full-view-affiliation-6"
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><sup class="key">6</sup> Genetics Institute, Schneider Children's Medical Center, Petah Tikva, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.</li>
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<li data-affiliation-id="full-view-affiliation-7"
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><sup class="key">7</sup> Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway.</li>
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><sup class="key">8</sup> UF de génétique clinique, Centre de Référence Maladies Rares des Anomalies du développement et syndromes malformatifs, APHP, Hôpital Trousseau, Paris, France.</li>
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><sup class="key">9</sup> AP-HP, Département de Génétique, Centre de Référence Maladies Rares "Anomalies du développement et syndromes malformatifs" Hôpital de la Pitié Salpêtrière, Paris, France.</li>
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id="full-view-affiliation-10"
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><sup class="key">10</sup> Department of Genetics, Utrecht University Medical Center, Utrecht, the Netherlands.</li>
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<li data-affiliation-id="full-view-affiliation-11"
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id="full-view-affiliation-11"
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><sup class="key">11</sup> Department of Clinical Genetics, Guy's Hospital, London, UK.</li>
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<li data-affiliation-id="full-view-affiliation-12"
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id="full-view-affiliation-12"
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><sup class="key">12</sup> Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.</li>
|
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|
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<li data-affiliation-id="full-view-affiliation-13"
|
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id="full-view-affiliation-13"
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><sup class="key">13</sup> Department of Pediatrics, Eastern Virginia Medical School, Norfolk, VA, USA.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-14"
|
||
id="full-view-affiliation-14"
|
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><sup class="key">14</sup> Centre for Rare Diseases, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.</li>
|
||
|
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<li data-affiliation-id="full-view-affiliation-15"
|
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id="full-view-affiliation-15"
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><sup class="key">15</sup> Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.</li>
|
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<li data-affiliation-id="full-view-affiliation-16"
|
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id="full-view-affiliation-16"
|
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><sup class="key">16</sup> Department of Pediatrics, Division of Genetics, Metabolism and Genomic Medicine, University of Michigan, Ann Arbor, MI, USA.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-17"
|
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id="full-view-affiliation-17"
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><sup class="key">17</sup> Department of Biochemistry and Genetics, University Hospital Angers, Angers, France.</li>
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||
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<li data-affiliation-id="full-view-affiliation-18"
|
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id="full-view-affiliation-18"
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><sup class="key">18</sup> Banner Child Neurology, Glendale, AZ, USA.</li>
|
||
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<li data-affiliation-id="full-view-affiliation-19"
|
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id="full-view-affiliation-19"
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><sup class="key">19</sup> Bone and Osteogenesis Imperfecta Department, Kennedy Krieger Institute, Baltimore, MD, USA.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-20"
|
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id="full-view-affiliation-20"
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><sup class="key">20</sup> Department of Pediatrics, Naval Medical Center Portsmouth, Portsmouth, VA, USA.</li>
|
||
|
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<li data-affiliation-id="full-view-affiliation-21"
|
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id="full-view-affiliation-21"
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><sup class="key">21</sup> Departments of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, San Antonio, TX, USA.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-22"
|
||
id="full-view-affiliation-22"
|
||
><sup class="key">22</sup> Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.</li>
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||
|
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<li data-affiliation-id="full-view-affiliation-23"
|
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id="full-view-affiliation-23"
|
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><sup class="key">23</sup> Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA, USA.</li>
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<li data-affiliation-id="full-view-affiliation-24"
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id="full-view-affiliation-24"
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<li data-affiliation-id="full-view-affiliation-25"
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id="full-view-affiliation-25"
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><sup class="key">25</sup> Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.</li>
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<li data-affiliation-id="full-view-affiliation-26"
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id="full-view-affiliation-26"
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id="full-view-affiliation-27"
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><sup class="key">27</sup> EA7364 RADEME (Research Team on Rare Developmental and Metabolic Diseases), Lille 2 University, Lille, France.</li>
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<li data-affiliation-id="full-view-affiliation-28"
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><sup class="key">28</sup> Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield, UK.</li>
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<li data-affiliation-id="full-view-affiliation-29"
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id="full-view-affiliation-29"
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><sup class="key">29</sup> Northern Genetics Service, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Institute of Human Genetics, International Centre for Life, Newcastle upon Tyne, UK.</li>
|
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|
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<li data-affiliation-id="full-view-affiliation-30"
|
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id="full-view-affiliation-30"
|
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><sup class="key">30</sup> University of Exeter Medical School, Clinical Genetics Royal Devon & Exeter Hospital, Exeter, UK.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-31"
|
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id="full-view-affiliation-31"
|
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><sup class="key">31</sup> Institute of Evolution, Systems and Genomics, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.</li>
|
||
|
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<li data-affiliation-id="full-view-affiliation-32"
|
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id="full-view-affiliation-32"
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><sup class="key">32</sup> Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, UK.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-33"
|
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id="full-view-affiliation-33"
|
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><sup class="key">33</sup> Laboratory of Structural Biology, Graduate School of Advanced Science & Engineering, Waseda University, Tokyo, Japan.</li>
|
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|
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<li data-affiliation-id="full-view-affiliation-34"
|
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id="full-view-affiliation-34"
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><sup class="key">34</sup> Mindich Child Health and Development Institute and Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.</li>
|
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|
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<li data-affiliation-id="full-view-affiliation-35"
|
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id="full-view-affiliation-35"
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><sup class="key">35</sup> Department of Pediatrics, University of Montreal and CHU Sainte-Justine, Montreal, QC, Canada.</li>
|
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|
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<li data-affiliation-id="full-view-affiliation-36"
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><sup class="key">36</sup> Wessex Clinical Genetics Service, University Hospital Southampton NHS Trust. Department of Human Genetics and Genomic Medicine, Southampton University, Southampton, UK.</li>
|
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|
||
</ul>
|
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<div class="equal-contrib-explanation" id="full-view-equal-contrib-explanation"><sup class="key">#</sup> Contributed equally.</div>
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<strong class="current-id" title="PubMed ID">31388190</strong>
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<h1 class="heading-title">
|
||
|
||
|
||
|
||
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||
|
||
|
||
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis
|
||
|
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|
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|
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</h1>
|
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<div class="short-citation">
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<span class="authors-list-item "><span class="full-name">Karin Weiss</span><span class="citation-separator"> et al.</span></span>
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</a></li></ul></div></div></div><span class="period">. </span><span class="cit">2020 Feb;22(2):389-397.</span>
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=van+Haeringen+A&cauthor_id=31388190"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
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|
||
data-ga-label="Arie van Haeringen">Arie van Haeringen</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands." href="#short-view-affiliation-22" ref="linksrc=author_aff">
|
||
22
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Gambello+M&cauthor_id=31388190"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
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|
||
data-ga-label="Michael Gambello">Michael Gambello</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA, USA." href="#short-view-affiliation-23" ref="linksrc=author_aff">
|
||
23
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Santani+A&cauthor_id=31388190"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
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||
data-ga-action="author_link"
|
||
data-ga-label="Avni Santani">Avni Santani</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA." href="#short-view-affiliation-15" ref="linksrc=author_aff">
|
||
15
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Medne+L&cauthor_id=31388190"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
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||
data-ga-label="Līvija Medne">Līvija Medne</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA." href="#short-view-affiliation-24" ref="linksrc=author_aff">
|
||
24
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Krock+B&cauthor_id=31388190"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
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||
data-ga-label="Bryan Krock">Bryan Krock</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA." href="#short-view-affiliation-15" ref="linksrc=author_aff">
|
||
15
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Skraban+CM&cauthor_id=31388190"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
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||
data-ga-label="Cara M Skraban">Cara M Skraban</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA." href="#short-view-affiliation-24" ref="linksrc=author_aff">
|
||
24
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Zackai+EH&cauthor_id=31388190"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
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|
||
data-ga-label="Elaine H Zackai">Elaine H Zackai</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA." href="#short-view-affiliation-24" ref="linksrc=author_aff">
|
||
24
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Dubbs+HA&cauthor_id=31388190"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Holly A Dubbs">Holly A Dubbs</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA." href="#short-view-affiliation-25" ref="linksrc=author_aff">
|
||
25
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Smol+T&cauthor_id=31388190"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Thomas Smol">Thomas Smol</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Genetics, Lille University Hospital, CHU Lille, Lille, France." href="#short-view-affiliation-26" ref="linksrc=author_aff">
|
||
26
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="EA7364 RADEME (Research Team on Rare Developmental and Metabolic Diseases), Lille 2 University, Lille, France." href="#short-view-affiliation-27" ref="linksrc=author_aff">
|
||
27
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Ghoumid+J&cauthor_id=31388190"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Jamal Ghoumid">Jamal Ghoumid</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Genetics, Lille University Hospital, CHU Lille, Lille, France." href="#short-view-affiliation-26" ref="linksrc=author_aff">
|
||
26
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="EA7364 RADEME (Research Team on Rare Developmental and Metabolic Diseases), Lille 2 University, Lille, France." href="#short-view-affiliation-27" ref="linksrc=author_aff">
|
||
27
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Parker+MJ&cauthor_id=31388190"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
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data-ga-action="author_link"
|
||
data-ga-label="Michael J Parker">Michael J Parker</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield, UK." href="#short-view-affiliation-28" ref="linksrc=author_aff">
|
||
28
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Wright+M&cauthor_id=31388190"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Michael Wright">Michael Wright</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Northern Genetics Service, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Institute of Human Genetics, International Centre for Life, Newcastle upon Tyne, UK." href="#short-view-affiliation-29" ref="linksrc=author_aff">
|
||
29
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Turnpenny+P&cauthor_id=31388190"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Peter Turnpenny">Peter Turnpenny</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="University of Exeter Medical School, Clinical Genetics Royal Devon & Exeter Hospital, Exeter, UK." href="#short-view-affiliation-30" ref="linksrc=author_aff">
|
||
30
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Clayton-Smith+J&cauthor_id=31388190"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Jill Clayton-Smith">Jill Clayton-Smith</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute of Evolution, Systems and Genomics, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK." href="#short-view-affiliation-31" ref="linksrc=author_aff">
|
||
31
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, UK." href="#short-view-affiliation-32" ref="linksrc=author_aff">
|
||
32
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Metcalfe+K&cauthor_id=31388190"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Kay Metcalfe">Kay Metcalfe</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute of Evolution, Systems and Genomics, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK." href="#short-view-affiliation-31" ref="linksrc=author_aff">
|
||
31
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, UK." href="#short-view-affiliation-32" ref="linksrc=author_aff">
|
||
32
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Kurumizaka+H&cauthor_id=31388190"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Hitoshi Kurumizaka">Hitoshi Kurumizaka</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Laboratory of Structural Biology, Graduate School of Advanced Science & Engineering, Waseda University, Tokyo, Japan." href="#short-view-affiliation-33" ref="linksrc=author_aff">
|
||
33
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Gelb+BD&cauthor_id=31388190"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Bruce D Gelb">Bruce D Gelb</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Mindich Child Health and Development Institute and Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA." href="#short-view-affiliation-34" ref="linksrc=author_aff">
|
||
34
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Baris+Feldman+H&cauthor_id=31388190"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Hagit Baris Feldman">Hagit Baris Feldman</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="The Genetics Institute, Rambam Health Care Campus, Haifa, Israel." href="#short-view-affiliation-3" ref="linksrc=author_aff">
|
||
3
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel." href="#short-view-affiliation-4" ref="linksrc=author_aff">
|
||
4
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Campeau+PM&cauthor_id=31388190"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Philippe M Campeau">Philippe M Campeau</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, University of Montreal and CHU Sainte-Justine, Montreal, QC, Canada." href="#short-view-affiliation-35" ref="linksrc=author_aff">
|
||
35
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Muenke+M&cauthor_id=31388190"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Maximilian Muenke">Maximilian Muenke</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA." href="#short-view-affiliation-5" ref="linksrc=author_aff">
|
||
5
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Wade+PA&cauthor_id=31388190"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Paul A Wade">Paul A Wade</a><sup class="equal-contrib-container"><span class="author-sup-separator"> </span><a class="equal-contrib" title="Contributed equally" href="#short-view-equal-contrib-explanation" ref="linksrc=author_equal_contrib">#</a></sup><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Epigenetics and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA." href="#short-view-affiliation-2" ref="linksrc=author_aff">
|
||
2
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Lachlan+K&cauthor_id=31388190"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Katherine Lachlan">Katherine Lachlan</a><sup class="equal-contrib-container"><span class="author-sup-separator"> </span><a class="equal-contrib" title="Contributed equally" href="#short-view-equal-contrib-explanation" ref="linksrc=author_equal_contrib">#</a></sup><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Wessex Clinical Genetics Service, University Hospital Southampton NHS Trust. Department of Human Genetics and Genomic Medicine, Southampton University, Southampton, UK." href="#short-view-affiliation-36" ref="linksrc=author_aff">
|
||
36
|
||
</a></sup></span>
|
||
</div>
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<div class="affiliations">
|
||
<h3 class="title">
|
||
Affiliations
|
||
</h3>
|
||
<ul class="item-list">
|
||
|
||
<li data-affiliation-id="short-view-affiliation-1"
|
||
id="short-view-affiliation-1"
|
||
><sup class="key">1</sup> The Genetics Institute, Rambam Health Care Campus, Haifa, Israel. k_weiss@rambam.health.gov.il.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-2"
|
||
id="short-view-affiliation-2"
|
||
><sup class="key">2</sup> Epigenetics and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-3"
|
||
id="short-view-affiliation-3"
|
||
><sup class="key">3</sup> The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-4"
|
||
id="short-view-affiliation-4"
|
||
><sup class="key">4</sup> The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-5"
|
||
id="short-view-affiliation-5"
|
||
><sup class="key">5</sup> Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-6"
|
||
id="short-view-affiliation-6"
|
||
><sup class="key">6</sup> Genetics Institute, Schneider Children's Medical Center, Petah Tikva, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-7"
|
||
id="short-view-affiliation-7"
|
||
><sup class="key">7</sup> Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-8"
|
||
id="short-view-affiliation-8"
|
||
><sup class="key">8</sup> UF de génétique clinique, Centre de Référence Maladies Rares des Anomalies du développement et syndromes malformatifs, APHP, Hôpital Trousseau, Paris, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-9"
|
||
id="short-view-affiliation-9"
|
||
><sup class="key">9</sup> AP-HP, Département de Génétique, Centre de Référence Maladies Rares "Anomalies du développement et syndromes malformatifs" Hôpital de la Pitié Salpêtrière, Paris, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-10"
|
||
id="short-view-affiliation-10"
|
||
><sup class="key">10</sup> Department of Genetics, Utrecht University Medical Center, Utrecht, the Netherlands.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-11"
|
||
id="short-view-affiliation-11"
|
||
><sup class="key">11</sup> Department of Clinical Genetics, Guy's Hospital, London, UK.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-12"
|
||
id="short-view-affiliation-12"
|
||
><sup class="key">12</sup> Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-13"
|
||
id="short-view-affiliation-13"
|
||
><sup class="key">13</sup> Department of Pediatrics, Eastern Virginia Medical School, Norfolk, VA, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-14"
|
||
id="short-view-affiliation-14"
|
||
><sup class="key">14</sup> Centre for Rare Diseases, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-15"
|
||
id="short-view-affiliation-15"
|
||
><sup class="key">15</sup> Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-16"
|
||
id="short-view-affiliation-16"
|
||
><sup class="key">16</sup> Department of Pediatrics, Division of Genetics, Metabolism and Genomic Medicine, University of Michigan, Ann Arbor, MI, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-17"
|
||
id="short-view-affiliation-17"
|
||
><sup class="key">17</sup> Department of Biochemistry and Genetics, University Hospital Angers, Angers, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-18"
|
||
id="short-view-affiliation-18"
|
||
><sup class="key">18</sup> Banner Child Neurology, Glendale, AZ, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-19"
|
||
id="short-view-affiliation-19"
|
||
><sup class="key">19</sup> Bone and Osteogenesis Imperfecta Department, Kennedy Krieger Institute, Baltimore, MD, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-20"
|
||
id="short-view-affiliation-20"
|
||
><sup class="key">20</sup> Department of Pediatrics, Naval Medical Center Portsmouth, Portsmouth, VA, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-21"
|
||
id="short-view-affiliation-21"
|
||
><sup class="key">21</sup> Departments of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, San Antonio, TX, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-22"
|
||
id="short-view-affiliation-22"
|
||
><sup class="key">22</sup> Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-23"
|
||
id="short-view-affiliation-23"
|
||
><sup class="key">23</sup> Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-24"
|
||
id="short-view-affiliation-24"
|
||
><sup class="key">24</sup> Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-25"
|
||
id="short-view-affiliation-25"
|
||
><sup class="key">25</sup> Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-26"
|
||
id="short-view-affiliation-26"
|
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><sup class="key">26</sup> Department of Clinical Genetics, Lille University Hospital, CHU Lille, Lille, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-27"
|
||
id="short-view-affiliation-27"
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><sup class="key">27</sup> EA7364 RADEME (Research Team on Rare Developmental and Metabolic Diseases), Lille 2 University, Lille, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-28"
|
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id="short-view-affiliation-28"
|
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><sup class="key">28</sup> Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield, UK.</li>
|
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|
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<li data-affiliation-id="short-view-affiliation-29"
|
||
id="short-view-affiliation-29"
|
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><sup class="key">29</sup> Northern Genetics Service, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Institute of Human Genetics, International Centre for Life, Newcastle upon Tyne, UK.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-30"
|
||
id="short-view-affiliation-30"
|
||
><sup class="key">30</sup> University of Exeter Medical School, Clinical Genetics Royal Devon & Exeter Hospital, Exeter, UK.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-31"
|
||
id="short-view-affiliation-31"
|
||
><sup class="key">31</sup> Institute of Evolution, Systems and Genomics, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-32"
|
||
id="short-view-affiliation-32"
|
||
><sup class="key">32</sup> Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, UK.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-33"
|
||
id="short-view-affiliation-33"
|
||
><sup class="key">33</sup> Laboratory of Structural Biology, Graduate School of Advanced Science & Engineering, Waseda University, Tokyo, Japan.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-34"
|
||
id="short-view-affiliation-34"
|
||
><sup class="key">34</sup> Mindich Child Health and Development Institute and Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-35"
|
||
id="short-view-affiliation-35"
|
||
><sup class="key">35</sup> Department of Pediatrics, University of Montreal and CHU Sainte-Justine, Montreal, QC, Canada.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-36"
|
||
id="short-view-affiliation-36"
|
||
><sup class="key">36</sup> Wessex Clinical Genetics Service, University Hospital Southampton NHS Trust. Department of Human Genetics and Genomic Medicine, Southampton University, Southampton, UK.</li>
|
||
|
||
</ul>
|
||
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<div class="equal-contrib-explanation" id="short-view-equal-contrib-explanation"><sup class="key">#</sup> Contributed equally.</div>
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PMID:
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<strong class="current-id" title="PubMed ID">31388190</strong>
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ref="linksrc=article_id_link&article_id=PMC8900827&id_type=PMC"
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DOI:
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ref="linksrc=article_id_link&article_id=10.1038/s41436-019-0612-0&id_type=DOI"
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href="https://doi.org/10.1038/s41436-019-0612-0"
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10.1038/s41436-019-0612-0
|
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<div class="docsum-content" style="display:inline;">
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<a class="docsum-title"
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href="/31844176/"
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Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
|
||
|
||
</a>
|
||
<div class="docsum-citation full-citation">
|
||
|
||
|
||
|
||
<span class="docsum-authors full-authors">Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Whalen S, Heide S, Keren B, Terhal P, Irving M, Takaku M, Roberts JD, Petrovich RM, Vergano SAS, Kenney A, Hove H, DeChene E, Quinonez SC, Colin E, Ziegler A, Rumple M, Jain M, Monteil D, Roeder ER, Nugent K, van Haeringen A, Gambello M, Santani A, Medne L, Krock B, Skraban CM, Zackai EH, Dubbs HA, Smol T, Ghoumid J, Parker MJ, Wright M, Turnpenny P, Clayton-Smith J, Metcalfe K, Kurumizaka H, Gelb BD, Feldman HB, Campeau PM, Muenke M, Wade PA, Lachlan K.</span>
|
||
|
||
|
||
|
||
<span class="docsum-authors short-authors">Weiss K, et al.</span>
|
||
<span class="docsum-journal-citation full-journal-citation">Genet Med. 2020 Mar;22(3):669. doi: 10.1038/s41436-019-0727-3.</span>
|
||
<span class="docsum-journal-citation short-journal-citation">Genet Med. 2020.</span>
|
||
|
||
|
||
<span class="citation-part">PMID: <span class="docsum-pmid">31844176</span></span>
|
||
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<p>
|
||
|
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<strong class="sub-title">
|
||
Purpose:
|
||
</strong>
|
||
|
||
Sifrim-Hitz-Weiss syndrome (SIHIWES) is a recently described multisystemic neurodevelopmental disorder caused by de novo variants inCHD4. In this study, we investigated the clinical spectrum of the disorder, genotype-phenotype correlations, and the effect of different missense variants on CHD4 function.
|
||
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|
||
|
||
<strong class="sub-title">
|
||
Methods:
|
||
</strong>
|
||
|
||
We collected clinical and molecular data from 32 individuals with mostly de novo variants in CHD4, identified through next-generation sequencing. We performed adenosine triphosphate (ATP) hydrolysis and nucleosome remodeling assays on variants from five different CHD4 domains.
|
||
</p>
|
||
|
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<strong class="sub-title">
|
||
Results:
|
||
</strong>
|
||
|
||
The majority of participants had global developmental delay, mild to moderate intellectual disability, brain anomalies, congenital heart defects, and dysmorphic features. Macrocephaly was a frequent but not universal finding. Additional common abnormalities included hypogonadism in males, skeletal and limb anomalies, hearing impairment, and ophthalmic abnormalities. The majority of variants were nontruncating and affected the SNF2-like region of the protein. We did not identify genotype-phenotype correlations based on the type or location of variants. Alterations in ATP hydrolysis and chromatin remodeling activities were observed in variants from different domains.
|
||
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|
||
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||
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|
||
Conclusion:
|
||
</strong>
|
||
|
||
The CHD4-related syndrome is a multisystemic neurodevelopmental disorder. Missense substitutions in different protein domains alter CHD4 function in a variant-specific manner, but result in a similar phenotype in humans.
|
||
</p>
|
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<strong class="sub-title">
|
||
Keywords:
|
||
</strong>
|
||
|
||
12p13.31; ATPase; chromatin remodeling; intellectual disability; missense.
|
||
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<a href="/disclaimer/" target="_blank" data-ga-category="literature_resources"
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data-ga-action="disclaimer_link" data-ga-label="under_abstract">PubMed Disclaimer</a>
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<div class="figures" id="figures">
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src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/536b/8900827/51420fe5f94a/nihms-1780806-f0001.gif"
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<p> Figure 1 </p>
|
||
</strong>
|
||
|
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|
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|
||
<div class="figure-caption-contents"><b> A: </b> CHD4 domains and the…</div>
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<p> Figure 1 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><b> A: </b> CHD4 domains and the location of variants identified in this cohort. Each…</div>
|
||
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Figure 1
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><b>A:</b> CHD4 domains and the location of variants identified in this cohort. Each variant is marked by an asterisk (*). Dark grey asterisk represents a truncating variant at the marked position. <b>1B:</b> A table demonstrating the amino acid positions and the clinical findings of <i>CHD4</i> variants detected in 32 individuals. The variants in bold have not been previously published. The domain color corresponds to A. Clinical findings marked in grey represent patients with truncating variants. *Hypogonadism refers to undescended testis, micropenis or abnormal gonadotropin levels. <b>1C:</b> 3D protein modeling of the different CHD4 domains. The domain color corresponds to A, and the variants are depicted in gold. Pathogenic variants were found in all highly conserved domains. The box shows that the Cys467 in the PHD2 domain is involved in Zinc binding (purple sphere).</div>
|
||
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|
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data-image-height="585"
|
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data-image-alt="Figure 2"
|
||
data-pmc-id="PMC8900827"
|
||
data-figure-id="F2">
|
||
<img class="figure-thumb" itemprop="thumbnail"
|
||
id="article-image-1"
|
||
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/536b/8900827/ce3212b3d523/nihms-1780806-f0002.gif"
|
||
alt="Figure 2" />
|
||
</a>
|
||
|
||
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|
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|
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|
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|
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|
||
<p> Figure 2 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><b> A: </b> The frequency of different…</div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
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|
||
|
||
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|
||
|
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|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Figure 2 </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><b> A: </b> The frequency of different clinical features in the CHD4-related syndrome cohort. The…</div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
<figcaption id="figure-caption-1" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
|
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|
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|
||
Figure 2
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><b>A:</b> The frequency of different clinical features in the CHD4-related syndrome cohort. The n refers to the number of individuals for which we had data on the specific feature. For instance, only 23 individuals in the cohort had a brain MRI and 29 had an echocardiogram. <b>2B:</b> Histogram of types of brain and heart anomalies seen in individuals in this cohort.</div>
|
||
|
||
|
||
|
||
|
||
</figcaption>
|
||
|
||
|
||
</figure>
|
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|
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data-pmc-id="PMC8900827"
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data-figure-id="F3">
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<img class="figure-thumb" itemprop="thumbnail"
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id="article-image-2"
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src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/536b/8900827/24c5d0d72037/nihms-1780806-f0003.gif"
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alt="Figure 3" />
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<strong class="figure-label">
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<p> Figure 3 </p>
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<div class="figure-caption-contents"><b> A </b> : Photographs of 17…</div>
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<strong class="figure-label">
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<p> Figure 3 </p>
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<div class="figure-caption-contents"><b> A </b> : Photographs of 17 individuals with the CHD4-related syndrome at different ages.…</div>
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Figure 3
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</strong>
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||
<div class="figure-caption-contents"><b>A</b>: Photographs of 17 individuals with the CHD4-related syndrome at different ages. Photo 14,19 and 23 was previously published in . Photo 8 and 17 were published in . 3B: A composite of 16 photographs of participants harboring variants within the SNF2 like domain compared to healthy controls. (FDNA Inc. USA)</div>
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data-image-width="929"
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data-image-alt="Figure 4:"
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data-pmc-id="PMC8900827"
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data-figure-id="F4">
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<img class="figure-thumb" itemprop="thumbnail"
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id="article-image-3"
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src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/536b/8900827/143544bffb96/nihms-1780806-f0004.gif"
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<p> Figure 4: </p>
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<div class="figure-caption-contents"><p> Radiometric ATPase assays were performed… </p></div>
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<strong class="figure-label">
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<p> Figure 4: </p>
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<div class="figure-caption-contents"><p> Radiometric ATPase assays were performed in the presence of recombinant nucleosome, naked DNA,… </p></div>
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</div>
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Figure 4:
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</strong>
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<div class="figure-caption-contents">Radiometric ATPase assays were performed in the presence of recombinant nucleosome, naked DNA, or in the absence of CHD4 (no protein). The percent of ATP hydrolyzed was quantified for each mutant and then normalized to wild-type (WT) activity. Experimental data are presented as means with standard deviation. Individual data points are represented by black (nucleosome) or grey (naked DNA) squares. Three individual experiments from two individual purifications (n=6) were performed. The significance of observed differences in activity was assessed by two-way ANOVA with Dunnett’s multiple test correction. (*) indicates P values < 0.05.</div>
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data-image-width="963"
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data-image-alt="Figure 5"
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data-pmc-id="PMC8900827"
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data-figure-id="F5">
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<img class="figure-thumb" itemprop="thumbnail"
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src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/536b/8900827/ef568a6d0f4e/nihms-1780806-f0005.gif"
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<meta itemprop="width" itemtype="http://schema.org/ImageObject" content="963">
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<meta itemprop="height" itemtype="http://schema.org/ImageObject" content="606">
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<div class="caption-wrap">
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<strong class="figure-label">
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<p> Figure 5 </p>
|
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</strong>
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<div class="figure-caption-contents"><p> Chromatin Remodeling Assay. A: Remodeling… </p></div>
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</div>
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<strong class="figure-label">
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<p> Figure 5 </p>
|
||
</strong>
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|
||
|
||
|
||
<div class="figure-caption-contents"><p> Chromatin Remodeling Assay. A: Remodeling activity of CHD4 WT and mutants was assessed… </p></div>
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</div>
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<figcaption id="figure-caption-4" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
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<strong class="figure-label">
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Figure 5
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents">Chromatin Remodeling Assay. A: Remodeling activity of CHD4 WT and mutants was assessed and quantified. 12, 6, and 3 nM enzyme was incubated with 12nM recombinant nucleosome in the presence of HhaI. Digested DNA fragments were analyzed on 6% native polyacrylamide gel. B: Quantitation of remodeling activity. Experimental data are presented as means with standard deviation. Three individual experiments from two individual purifications (N = 6) were performed. C: A two-way ANOVA with Dunnett’s multiple test correction was performed to assess the significance of observed differences in activity. Table shows the significant P values for each mutation and at each dose. Ns = not significant.</div>
|
||
|
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||
|
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</figcaption>
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|
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Basta J, Rauchman M. The nucleosome remodeling and deacetylase complex in development and disease. Transl Res. 2015;165(1):36–47. doi:10.1016/j.trsl.2014.05.003
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|
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|
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|
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-
|
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|
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class="reference-link"
|
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DOI
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-
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<a
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class="reference-link"
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Research Support, N.I.H., Intramural
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data-pinger-ignore>
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Child, Preschool
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data-pinger-ignore>
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Chromatin Assembly and Disassembly / genetics
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|
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data-href="/?term=%22Chromatin+Assembly+and+Disassembly%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Chromatin Assembly and Disassembly/genetics"[MeSH]"
|
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
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href="https://www.ncbi.nlm.nih.gov/mesh?term=Chromatin+Assembly+and+Disassembly"
|
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Search in MeSH
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</a></li><li><a class="add-to-search-link dropdown-block-link"
|
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|
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data-ga-action="add_to_search"
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data-ga-label=""Chromatin Assembly and Disassembly/genetics"[MeSH]"
|
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Add to Search
|
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
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aria-label="Toggle dropdown menu for keyword Developmental Disabilities / genetics"
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tabindex="0"
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aria-controls="keyword-actions-mesh-terms-6"
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aria-expanded="false"
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data-pinger-ignore>
|
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Developmental Disabilities / genetics
|
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</button><div id="keyword-actions-mesh-terms-6"
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class="keyword-actions-dropdown dropdown dropdown-container"
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hidden
|
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aria-label="Dropdown menu for keyword Developmental Disabilities / genetics"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
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href="/?term=%22Developmental+Disabilities%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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data-href="/?term=%22Developmental+Disabilities%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Developmental Disabilities/genetics"[MeSH]"
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Search in MeSH
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</a></li><li><a class="add-to-search-link dropdown-block-link"
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data-search-term=""Developmental Disabilities/genetics"[MeSH]"
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data-ga-category="search"
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data-ga-action="add_to_search"
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data-ga-label=""Developmental Disabilities/genetics"[MeSH]"
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Add to Search
|
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
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aria-label="Toggle dropdown menu for keyword Female"
|
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tabindex="0"
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aria-controls="keyword-actions-mesh-terms-7"
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aria-expanded="false"
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data-pinger-ignore>
|
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Female
|
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</button><div id="keyword-actions-mesh-terms-7"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
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aria-label="Dropdown menu for keyword Female"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
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href="/?term=%22Female%22%5BMeSH%5D&sort=date&sort_order=desc"
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data-href="/?term=%22Female%22%5BMeSH%5D&sort=date&sort_order=desc"
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Female"[MeSH]"
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Search in PubMed
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
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href="https://www.ncbi.nlm.nih.gov/mesh?term=Female"
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data-ga-category="search_mesh"
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Search in MeSH
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</a></li><li><a class="add-to-search-link dropdown-block-link"
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data-search-term=""Female"[MeSH]"
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data-ga-action="add_to_search"
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data-ga-label=""Female"[MeSH]"
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|
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
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aria-label="Toggle dropdown menu for keyword Genetic Association Studies"
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tabindex="0"
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aria-controls="keyword-actions-mesh-terms-8"
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aria-expanded="false"
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data-pinger-ignore>
|
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Genetic Association Studies
|
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</button><div id="keyword-actions-mesh-terms-8"
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class="keyword-actions-dropdown dropdown dropdown-container"
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hidden
|
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aria-label="Dropdown menu for keyword Genetic Association Studies"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
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href="/?term=%22Genetic+Association+Studies%22%5BMeSH%5D&sort=date&sort_order=desc"
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data-href="/?term=%22Genetic+Association+Studies%22%5BMeSH%5D&sort=date&sort_order=desc"
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Genetic Association Studies"[MeSH]"
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|
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
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aria-expanded="false"
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data-pinger-ignore>
|
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Genotype
|
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</button><div id="keyword-actions-mesh-terms-9"
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class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
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aria-label="Dropdown menu for keyword Genotype"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
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href="/?term=%22Genotype%22%5BMeSH%5D&sort=date&sort_order=desc"
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data-href="/?term=%22Genotype%22%5BMeSH%5D&sort=date&sort_order=desc"
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Genotype"[MeSH]"
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|
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
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aria-label="Toggle dropdown menu for keyword Hearing Loss / genetics"
|
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tabindex="0"
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aria-expanded="false"
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data-pinger-ignore>
|
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Hearing Loss / genetics
|
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</button><div id="keyword-actions-mesh-terms-10"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
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aria-label="Dropdown menu for keyword Hearing Loss / genetics"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
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href="/?term=%22Hearing+Loss%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
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data-href="/?term=%22Hearing+Loss%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Hearing Loss/genetics"[MeSH]"
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data-ga-category="search"
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Add to Search
|
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
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aria-label="Toggle dropdown menu for keyword Heart Defects, Congenital / genetics"
|
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tabindex="0"
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aria-controls="keyword-actions-mesh-terms-11"
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aria-expanded="false"
|
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data-pinger-ignore>
|
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Heart Defects, Congenital / genetics
|
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</button><div id="keyword-actions-mesh-terms-11"
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class="keyword-actions-dropdown dropdown dropdown-container"
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hidden
|
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aria-label="Dropdown menu for keyword Heart Defects, Congenital / genetics"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
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href="/?term=%22Heart+Defects%2C+Congenital%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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data-href="/?term=%22Heart+Defects%2C+Congenital%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Heart Defects, Congenital/genetics"[MeSH]"
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Search in PubMed
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
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href="https://www.ncbi.nlm.nih.gov/mesh?term=Heart+Defects%2C+Congenital"
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Search in MeSH
|
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</a></li><li><a class="add-to-search-link dropdown-block-link"
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ref="linksrc=add_to_search_link"
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role="button"
|
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data-search-term=""Heart Defects, Congenital/genetics"[MeSH]"
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data-ga-category="search"
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data-ga-action="add_to_search"
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Add to Search
|
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
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aria-label="Toggle dropdown menu for keyword Humans"
|
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tabindex="0"
|
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aria-controls="keyword-actions-mesh-terms-12"
|
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aria-expanded="false"
|
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data-pinger-ignore>
|
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Humans
|
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</button><div id="keyword-actions-mesh-terms-12"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
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aria-label="Dropdown menu for keyword Humans"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
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href="/?term=%22Humans%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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data-href="/?term=%22Humans%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Humans"[MeSH]"
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Search in PubMed
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
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href="https://www.ncbi.nlm.nih.gov/mesh?term=Humans"
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data-ga-category="search_mesh"
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Search in MeSH
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</a></li><li><a class="add-to-search-link dropdown-block-link"
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data-search-term=""Humans"[MeSH]"
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data-ga-category="search"
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data-ga-action="add_to_search"
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Add to Search
|
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
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aria-label="Toggle dropdown menu for keyword Infant"
|
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tabindex="0"
|
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aria-controls="keyword-actions-mesh-terms-13"
|
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aria-expanded="false"
|
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data-pinger-ignore>
|
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Infant
|
||
</button><div id="keyword-actions-mesh-terms-13"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
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aria-label="Dropdown menu for keyword Infant"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
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href="/?term=%22Infant%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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data-href="/?term=%22Infant%22%5BMeSH%5D&sort=date&sort_order=desc"
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Infant"[MeSH]"
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data-ga-action="mesh_term"
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Search in PubMed
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
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href="https://www.ncbi.nlm.nih.gov/mesh?term=Infant"
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data-ga-category="search_mesh"
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data-ga-label="Infant">
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Search in MeSH
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</a></li><li><a class="add-to-search-link dropdown-block-link"
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role="button"
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data-search-term=""Infant"[MeSH]"
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data-ga-category="search"
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data-ga-action="add_to_search"
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data-ga-label=""Infant"[MeSH]"
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href="#">
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Add to Search
|
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
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aria-label="Toggle dropdown menu for keyword Infant, Newborn"
|
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tabindex="0"
|
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aria-expanded="false"
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data-pinger-ignore>
|
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Infant, Newborn
|
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</button><div id="keyword-actions-mesh-terms-14"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
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aria-label="Dropdown menu for keyword Infant, Newborn"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
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href="/?term=%22Infant%2C+Newborn%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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data-href="/?term=%22Infant%2C+Newborn%22%5BMeSH%5D&sort=date&sort_order=desc"
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Infant, Newborn"[MeSH]"
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data-search-term=""Infant, Newborn"[MeSH]"
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data-ga-category="search"
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Add to Search
|
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
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aria-label="Toggle dropdown menu for keyword Intellectual Disability / genetics"
|
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tabindex="0"
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aria-controls="keyword-actions-mesh-terms-15"
|
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aria-expanded="false"
|
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data-pinger-ignore>
|
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Intellectual Disability / genetics
|
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</button><div id="keyword-actions-mesh-terms-15"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
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aria-label="Dropdown menu for keyword Intellectual Disability / genetics"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
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href="/?term=%22Intellectual+Disability%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
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data-href="/?term=%22Intellectual+Disability%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Intellectual Disability/genetics"[MeSH]"
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Search in PubMed
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
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Search in MeSH
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</a></li><li><a class="add-to-search-link dropdown-block-link"
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data-search-term=""Intellectual Disability/genetics"[MeSH]"
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data-ga-category="search"
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data-ga-action="add_to_search"
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Add to Search
|
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
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aria-label="Toggle dropdown menu for keyword Male"
|
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tabindex="0"
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aria-expanded="false"
|
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|
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Male
|
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</button><div id="keyword-actions-mesh-terms-16"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
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aria-label="Dropdown menu for keyword Male"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
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href="/?term=%22Male%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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data-href="/?term=%22Male%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Male"[MeSH]"
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
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href="https://www.ncbi.nlm.nih.gov/mesh?term=Male"
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data-ga-category="search_mesh"
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Search in MeSH
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</a></li><li><a class="add-to-search-link dropdown-block-link"
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data-search-term=""Male"[MeSH]"
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|
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
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aria-label="Toggle dropdown menu for keyword Megalencephaly / genetics"
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aria-expanded="false"
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data-pinger-ignore>
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Megalencephaly / genetics
|
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</button><div id="keyword-actions-mesh-terms-17"
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class="keyword-actions-dropdown dropdown dropdown-container"
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hidden
|
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aria-label="Dropdown menu for keyword Megalencephaly / genetics"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
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href="/?term=%22Megalencephaly%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
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data-href="/?term=%22Megalencephaly%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major"
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Mi-2 Nucleosome Remodeling and Deacetylase Complex / genetics*
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</button><div id="keyword-actions-mesh-terms-major-18"
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
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Mi-2 Nucleosome Remodeling and Deacetylase Complex / metabolism
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</button><div id="keyword-actions-mesh-terms-19"
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|
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data-href="/?term=%22Mi-2+Nucleosome+Remodeling+and+Deacetylase+Complex%2Fmetabolism%22%5BMeSH%5D&sort=date&sort_order=desc"
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Mi-2 Nucleosome Remodeling and Deacetylase Complex/metabolism"[MeSH]"
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
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Musculoskeletal Abnormalities / genetics
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hidden
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aria-label="Dropdown menu for keyword Musculoskeletal Abnormalities / genetics"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
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href="/?term=%22Musculoskeletal+Abnormalities%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
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data-href="/?term=%22Musculoskeletal+Abnormalities%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Musculoskeletal Abnormalities/genetics"[MeSH]"
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|
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
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aria-label="Toggle dropdown menu for keyword Mutation, Missense / genetics"
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tabindex="0"
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aria-expanded="false"
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data-pinger-ignore>
|
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Mutation, Missense / genetics
|
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</button><div id="keyword-actions-mesh-terms-21"
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class="keyword-actions-dropdown dropdown dropdown-container"
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hidden
|
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aria-label="Dropdown menu for keyword Mutation, Missense / genetics"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
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href="/?term=%22Mutation%2C+Missense%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
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data-href="/?term=%22Mutation%2C+Missense%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Mutation, Missense/genetics"[MeSH]"
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Search in MeSH
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data-search-term=""Mutation, Missense/genetics"[MeSH]"
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Add to Search
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major"
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tabindex="0"
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aria-expanded="false"
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Neurodevelopmental Disorders / genetics*
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</button><div id="keyword-actions-mesh-terms-major-22"
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hidden
|
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aria-label="Dropdown menu for keyword Neurodevelopmental Disorders / genetics*"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
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href="/?term=%22Neurodevelopmental+Disorders%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
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data-href="/?term=%22Neurodevelopmental+Disorders%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Neurodevelopmental Disorders/genetics"[MAJR]"
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Search in MeSH
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data-search-term=""Neurodevelopmental Disorders/genetics"[MAJR]"
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Add to Search
|
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
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aria-label="Toggle dropdown menu for keyword Phenotype"
|
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tabindex="0"
|
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aria-controls="keyword-actions-mesh-terms-23"
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aria-expanded="false"
|
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data-pinger-ignore>
|
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Phenotype
|
||
</button><div id="keyword-actions-mesh-terms-23"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
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aria-label="Dropdown menu for keyword Phenotype"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
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href="/?term=%22Phenotype%22%5BMeSH%5D&sort=date&sort_order=desc"
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data-href="/?term=%22Phenotype%22%5BMeSH%5D&sort=date&sort_order=desc"
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Phenotype"[MeSH]"
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Search in PubMed
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Search in MeSH
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</a></li><li><a class="add-to-search-link dropdown-block-link"
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data-search-term=""Phenotype"[MeSH]"
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data-ga-category="search"
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data-ga-action="add_to_search"
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data-ga-label=""Phenotype"[MeSH]"
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Add to Search
|
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
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aria-label="Toggle dropdown menu for keyword Syndrome"
|
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tabindex="0"
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aria-controls="keyword-actions-mesh-terms-24"
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aria-expanded="false"
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data-pinger-ignore>
|
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Syndrome
|
||
</button><div id="keyword-actions-mesh-terms-24"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
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aria-label="Dropdown menu for keyword Syndrome"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
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href="/?term=%22Syndrome%22%5BMeSH%5D&sort=date&sort_order=desc"
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data-href="/?term=%22Syndrome%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Syndrome"[MeSH]"
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Search in PubMed
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
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Search in MeSH
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</a></li><li><a class="add-to-search-link dropdown-block-link"
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Add to Search
|
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
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aria-label="Toggle dropdown menu for keyword Transcription Factors / genetics"
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tabindex="0"
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data-pinger-ignore>
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Transcription Factors / genetics
|
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</button><div id="keyword-actions-mesh-terms-25"
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class="keyword-actions-dropdown dropdown dropdown-container"
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hidden
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aria-label="Dropdown menu for keyword Transcription Factors / genetics"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
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href="/?term=%22Transcription+Factors%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
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data-href="/?term=%22Transcription+Factors%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Transcription Factors/genetics"[MeSH]"
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Search in PubMed
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
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Search in MeSH
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</a></li><li><a class="add-to-search-link dropdown-block-link"
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Add to Search
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</a></li></ul></div></div></div></li></ul>
|
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</div>
|
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|
||
|
||
|
||
|
||
|
||
<div id="substances" class="substances keywords-section">
|
||
<h2 class="title">
|
||
Substances
|
||
</h2>
|
||
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