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|
||
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%2F29220674%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%2F29220674%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="apHrPKjDV0CDpzSu9ByGQxLP2EuJFJN1rcrwsAMZvBp7j0YkMUbIkFhtAIcVykll">
|
||
</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="apHrPKjDV0CDpzSu9ByGQxLP2EuJFJN1rcrwsAMZvBp7j0YkMUbIkFhtAIcVykll">
|
||
|
||
|
||
|
||
<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="apHrPKjDV0CDpzSu9ByGQxLP2EuJFJN1rcrwsAMZvBp7j0YkMUbIkFhtAIcVykll">
|
||
|
||
<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: 29220674 - PubMed</span>
|
||
<input type="hidden" name="email-subject" value="1 selected item: 29220674"/>
|
||
<input type="hidden" name="email-subject-hash" value="5948e9e165498ddb37d70e510c5bacdb8ceac888a8122d5808685681f84c3cd0"/>
|
||
</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="apHrPKjDV0CDpzSu9ByGQxLP2EuJFJN1rcrwsAMZvBp7j0YkMUbIkFhtAIcVykll">
|
||
|
||
|
||
|
||
<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="apHrPKjDV0CDpzSu9ByGQxLP2EuJFJN1rcrwsAMZvBp7j0YkMUbIkFhtAIcVykll">
|
||
|
||
|
||
|
||
<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="apHrPKjDV0CDpzSu9ByGQxLP2EuJFJN1rcrwsAMZvBp7j0YkMUbIkFhtAIcVykll">
|
||
|
||
<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="apHrPKjDV0CDpzSu9ByGQxLP2EuJFJN1rcrwsAMZvBp7j0YkMUbIkFhtAIcVykll">
|
||
|
||
|
||
|
||
<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="apHrPKjDV0CDpzSu9ByGQxLP2EuJFJN1rcrwsAMZvBp7j0YkMUbIkFhtAIcVykll">
|
||
|
||
<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="29220674">
|
||
<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/S0002-9297(17)30459-7"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=False&PrId=3048&itool=Abstract-def&log$=linkouticon&uid=29220674&db=pubmed&nlmid=0370475"
|
||
title="See full text options at Elsevier Science"
|
||
|
||
data-ga-category="full_text"
|
||
data-ga-action="Elsevier Science"
|
||
data-ga-label="29220674"
|
||
><img src="https://cdn.ncbi.nlm.nih.gov/corehtml/query/egifs/https:--linkinghub.elsevier.com-ihub-images-celloa.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/29220674/"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=True&PrId=3494&itool=Abstract-def&log$=linkouticon&uid=29220674&db=pubmed&nlmid=0370475"
|
||
title="Free full text at PubMed Central"
|
||
|
||
data-ga-category="full_text"
|
||
data-ga-action="PMC"
|
||
data-ga-label="29220674"
|
||
><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="/29220674/citations/"
|
||
data-citation-style="nlm"
|
||
data-pubmed-format-link="/29220674/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="29220674" 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%2F29220674%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="apHrPKjDV0CDpzSu9ByGQxLP2EuJFJN1rcrwsAMZvBp7j0YkMUbIkFhtAIcVykll"><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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</a></li></ul></div></div></div><span class="period">. </span><span class="cit">2017 Dec 7;101(6):1021-1033.</span>
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ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder
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data-ga-label="Charu Deshpande">Charu Deshpande</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Clinical Genetics Department, Guy's Hospital, SE1 9RT London, UK." href="#full-view-affiliation-9" ref="linksrc=author_aff">
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9
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|
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10
|
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11
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|
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12
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13
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14
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15
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16
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3
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17
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data-ga-label="Sylvie Langlois">Sylvie Langlois</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Medical Genetics, University of British Columbia, BC V6T 1Z4 Vancouver, Canada." href="#full-view-affiliation-14" ref="linksrc=author_aff">
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14
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data-ga-label="Rachel Lennon">Rachel Lennon</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Wellcome Centre for Cell-Matrix Research, Division of Cell-Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, M13 9PL Manchester, UK." href="#full-view-affiliation-18" ref="linksrc=author_aff">
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18
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19
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data-ga-label="David Y T Ma">David Y T Ma</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Medical Genetics, University of British Columbia, BC V6T 1Z4 Vancouver, Canada." href="#full-view-affiliation-14" ref="linksrc=author_aff">
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14
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16
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data-ga-label="Maryse Des Medt">Maryse Des Medt</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Center for Human genetics, Katholieke Universiteit Leuven and University Hospital Leuven, B-3000 Leuven, Belgium." href="#full-view-affiliation-10" ref="linksrc=author_aff">
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10
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data-ga-label="James O'Sullivan">James O'Sullivan</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, M13 9PL Manchester, UK; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University Foundation NHS Trust, Health Innovation Manchester, M13 9WL Manchester, UK." href="#full-view-affiliation-2" ref="linksrc=author_aff">
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2
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data-ga-label="Sylvie Odent">Sylvie Odent</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service de Génétique Clinique, Centre de Référence "Maladies Rares" CLAD-Ouest, Hôpital SUD, University Rennes 1, UMR 6290, 35000 Rennes, France." href="#full-view-affiliation-20" ref="linksrc=author_aff">
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20
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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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 Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Western Bank, S20 1NZ Sheffield, UK." href="#full-view-affiliation-21" ref="linksrc=author_aff">
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21
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22
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23
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24
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14
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25
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data-ga-label="Pradeep Vasudevan">Pradeep Vasudevan</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Genetics, University Hospitals of Leicester NHS Trust, Leicester Royal Infirmary, LE1 5WW Leicester, UK." href="#full-view-affiliation-26" ref="linksrc=author_aff">
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26
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data-ga-label="Olaya Villa">Olaya Villa</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Quantitative Genomic Medicine Laboratories (qGenomics), 08950 Barcelona, Spain." href="#full-view-affiliation-8" ref="linksrc=author_aff">
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8
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Susan M White">Susan M White</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Victorian Clinical Genetics Services, Murdoch Children's Research Institute, VIC 3052 Melbourne, Australia; Department of Paediatrics, University of Melbourne, VIC 3010, Melbourne, Australia." href="#full-view-affiliation-27" ref="linksrc=author_aff">
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27
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data-ga-label="Farah R Zahir">Farah R Zahir</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Medical Genetics, University of British Columbia, BC V6T 1Z4 Vancouver, Canada; Qatar Biomedical Research Institute, Hamad Bin Khalifa University, 34110 Doha, Qatar." href="#full-view-affiliation-28" ref="linksrc=author_aff">
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28
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</a></sup><span class="semicolon">; </span></span><span class="authors-list-item "><a class="full-name"
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29
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data-ga-label="Adrian S Woolf">Adrian S Woolf</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, M13 9PL, Manchester, UK; Department of Nephrology, Royal Manchester Children's Hospital, Manchester Academic Health Science Centre, M13 9WL Manchester, UK." href="#full-view-affiliation-30" ref="linksrc=author_aff">
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30
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data-ga-label="Siddharth Banka">Siddharth Banka</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, M13 9PL Manchester, UK; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University Foundation NHS Trust, Health Innovation Manchester, M13 9WL Manchester, UK. Electronic address: siddharth.banka@manchester.ac.uk." href="#full-view-affiliation-31" ref="linksrc=author_aff">
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31
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><sup class="key">1</sup> Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, M13 9PL Manchester, UK.</li>
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><sup class="key">2</sup> Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, M13 9PL Manchester, UK; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University Foundation NHS Trust, Health Innovation Manchester, M13 9WL Manchester, UK.</li>
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><sup class="key">3</sup> Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University Foundation NHS Trust, Health Innovation Manchester, M13 9WL Manchester, UK.</li>
|
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|
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><sup class="key">4</sup> Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, M13 9PL, Manchester, UK.</li>
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<li data-affiliation-id="full-view-affiliation-5"
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><sup class="key">5</sup> East Anglian Medical Genetics Service, Department of Clinical Genetics, Addenbrooke's Hospital, CB2 0QQ, Cambridge, UK.</li>
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<li data-affiliation-id="full-view-affiliation-6"
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><sup class="key">6</sup> Cytogenetics Unit, Casa Sollievo della Sofferenza Hospital, 71013 San Giovanni Rotondo, Italy.</li>
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><sup class="key">18</sup> Wellcome Centre for Cell-Matrix Research, Division of Cell-Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, M13 9PL Manchester, UK.</li>
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><sup class="key">19</sup> Service d'Anatomie Pathologique, Hôpital Pontchaillou, University Rennes 1, 35000 Rennes, France.</li>
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<li data-affiliation-id="full-view-affiliation-20"
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><sup class="key">20</sup> Service de Génétique Clinique, Centre de Référence "Maladies Rares" CLAD-Ouest, Hôpital SUD, University Rennes 1, UMR 6290, 35000 Rennes, France.</li>
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<li data-affiliation-id="full-view-affiliation-22"
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><sup class="key">22</sup> Service de Cytogénétique Médicale, Centre Hospitalier Régional Clermont-Ferrand, 63000 Clermont-Ferrand, France.</li>
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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> Service de Genetique Clinique, Centre Hospitalier Régional Lille, 59000 Lille, France.</li>
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<li data-affiliation-id="full-view-affiliation-25"
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><sup class="key">25</sup> Zentrum Medizinische Genetik, Medical University of Innsbruck, 6020 Innsbruck, Austria.</li>
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<li data-affiliation-id="full-view-affiliation-26"
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><sup class="key">26</sup> Department of Clinical Genetics, University Hospitals of Leicester NHS Trust, Leicester Royal Infirmary, LE1 5WW Leicester, UK.</li>
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<li data-affiliation-id="full-view-affiliation-27"
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><sup class="key">27</sup> Victorian Clinical Genetics Services, Murdoch Children's Research Institute, VIC 3052 Melbourne, Australia; Department of Paediatrics, University of Melbourne, VIC 3010, Melbourne, Australia.</li>
|
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|
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<li data-affiliation-id="full-view-affiliation-28"
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id="full-view-affiliation-28"
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><sup class="key">28</sup> Department of Medical Genetics, University of British Columbia, BC V6T 1Z4 Vancouver, Canada; Qatar Biomedical Research Institute, Hamad Bin Khalifa University, 34110 Doha, Qatar.</li>
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<li data-affiliation-id="full-view-affiliation-29"
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><sup class="key">29</sup> Wellcome Trust Sanger Institute, CB10 1SA Cambridge, UK.</li>
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<li data-affiliation-id="full-view-affiliation-30"
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|
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><sup class="key">30</sup> Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, M13 9PL, Manchester, UK; Department of Nephrology, Royal Manchester Children's Hospital, Manchester Academic Health Science Centre, M13 9WL Manchester, UK.</li>
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<li data-affiliation-id="full-view-affiliation-31"
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><sup class="key">31</sup> Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, M13 9PL Manchester, UK; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University Foundation NHS Trust, Health Innovation Manchester, M13 9WL Manchester, UK. Electronic address: siddharth.banka@manchester.ac.uk.</li>
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ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder
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<div class="short-citation">
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<span class="authors-list-item "><span class="full-name">Sara Cuvertino</span><span class="citation-separator"> et al.</span></span>
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data-ga-label="Sanjeev Bhaskar">Sanjeev Bhaskar</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University Foundation NHS Trust, Health Innovation Manchester, M13 9WL Manchester, UK." href="#short-view-affiliation-3" ref="linksrc=author_aff">
|
||
3
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Callewaert+B&cauthor_id=29220674"
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data-ga-label="Bert Callewaert">Bert Callewaert</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium." href="#short-view-affiliation-7" ref="linksrc=author_aff">
|
||
7
|
||
</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=29220674"
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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="Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, M13 9PL Manchester, UK; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University Foundation NHS Trust, Health Innovation Manchester, M13 9WL Manchester, UK." 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"
|
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href="/?term=Davalillo+CH&cauthor_id=29220674"
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data-ga-label="Cristina Hernando Davalillo">Cristina Hernando Davalillo</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Quantitative Genomic Medicine Laboratories (qGenomics), 08950 Barcelona, Spain." href="#short-view-affiliation-8" ref="linksrc=author_aff">
|
||
8
|
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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=Deshpande+C&cauthor_id=29220674"
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data-ga-label="Charu Deshpande">Charu Deshpande</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Clinical Genetics Department, Guy's Hospital, SE1 9RT London, UK." href="#short-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=Devriendt+K&cauthor_id=29220674"
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data-ga-label="Koenraad Devriendt">Koenraad Devriendt</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Center for Human genetics, Katholieke Universiteit Leuven and University Hospital Leuven, B-3000 Leuven, Belgium." href="#short-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=Digilio+MC&cauthor_id=29220674"
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data-ga-label="Maria C Digilio">Maria C Digilio</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Medical Genetics, Bambino Gesù Pediatric Hospital, IRCCS, 00165 Rome, Italy." href="#short-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=Dixit+A&cauthor_id=29220674"
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data-ga-label="Abhijit Dixit">Abhijit Dixit</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Genetics, Nottingham City Hospital, NG5 1PB Nottingham, UK." href="#short-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=Edwards+M&cauthor_id=29220674"
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data-ga-label="Matthew Edwards">Matthew Edwards</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Paediatrics, School of Medicine, University of Western Sydney, NSW 2751, New South Wales, Australia." href="#short-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=Friedman+JM&cauthor_id=29220674"
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data-ga-label="Jan M Friedman">Jan M Friedman</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Medical Genetics, University of British Columbia, BC V6T 1Z4 Vancouver, Canada." href="#short-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=Gonzalez-Meneses+A&cauthor_id=29220674"
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data-ga-label="Antonio Gonzalez-Meneses">Antonio Gonzalez-Meneses</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Servicio de Pediatría, Hospital Viamed Santa Ángela de la Cruz, 41014 Sevilla, Spain." 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"
|
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href="/?term=Joss+S&cauthor_id=29220674"
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data-ga-label="Shelagh Joss">Shelagh Joss</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="West of Scotland Genetics Service, Queen Elizabeth University Hospital, G51 4TF Glasgow, UK." href="#short-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=Kerr+B&cauthor_id=29220674"
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data-ga-label="Bronwyn Kerr">Bronwyn Kerr</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University Foundation NHS Trust, Health Innovation Manchester, M13 9WL Manchester, UK." href="#short-view-affiliation-3" ref="linksrc=author_aff">
|
||
3
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Lampe+AK&cauthor_id=29220674"
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data-ga-label="Anne Katrin Lampe">Anne Katrin Lampe</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="South East of Scotland Clinical Genetic Department, Western General Hospital, EH4 2XU Edinburgh, UK." href="#short-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=Langlois+S&cauthor_id=29220674"
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data-ga-label="Sylvie Langlois">Sylvie Langlois</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Medical Genetics, University of British Columbia, BC V6T 1Z4 Vancouver, Canada." href="#short-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=Lennon+R&cauthor_id=29220674"
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ref="linksrc=author_name_link"
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data-ga-label="Rachel Lennon">Rachel Lennon</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Wellcome Centre for Cell-Matrix Research, Division of Cell-Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, M13 9PL Manchester, UK." href="#short-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=Loget+P&cauthor_id=29220674"
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ref="linksrc=author_name_link"
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data-ga-label="Philippe Loget">Philippe Loget</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service d'Anatomie Pathologique, Hôpital Pontchaillou, University Rennes 1, 35000 Rennes, France." href="#short-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=Ma+DYT&cauthor_id=29220674"
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ref="linksrc=author_name_link"
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data-ga-label="David Y T Ma">David Y T Ma</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Medical Genetics, University of British Columbia, BC V6T 1Z4 Vancouver, Canada." href="#short-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=McGowan+R&cauthor_id=29220674"
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ref="linksrc=author_name_link"
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data-ga-label="Ruth McGowan">Ruth McGowan</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="West of Scotland Genetics Service, Queen Elizabeth University Hospital, G51 4TF Glasgow, UK." href="#short-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=Des+Medt+M&cauthor_id=29220674"
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ref="linksrc=author_name_link"
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data-ga-label="Maryse Des Medt">Maryse Des Medt</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Center for Human genetics, Katholieke Universiteit Leuven and University Hospital Leuven, B-3000 Leuven, Belgium." href="#short-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=O%27Sullivan+J&cauthor_id=29220674"
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data-ga-label="James O'Sullivan">James O'Sullivan</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, M13 9PL Manchester, UK; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University Foundation NHS Trust, Health Innovation Manchester, M13 9WL Manchester, UK." 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=Odent+S&cauthor_id=29220674"
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data-ga-label="Sylvie Odent">Sylvie Odent</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service de Génétique Clinique, Centre de Référence "Maladies Rares" CLAD-Ouest, Hôpital SUD, University Rennes 1, UMR 6290, 35000 Rennes, France." href="#short-view-affiliation-20" ref="linksrc=author_aff">
|
||
20
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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=Parker+MJ&cauthor_id=29220674"
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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 Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Western Bank, S20 1NZ Sheffield, UK." href="#short-view-affiliation-21" ref="linksrc=author_aff">
|
||
21
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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=Pebrel-Richard+C&cauthor_id=29220674"
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data-ga-label="Céline Pebrel-Richard">Céline Pebrel-Richard</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service de Cytogénétique Médicale, Centre Hospitalier Régional Clermont-Ferrand, 63000 Clermont-Ferrand, France." href="#short-view-affiliation-22" ref="linksrc=author_aff">
|
||
22
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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=Petit+F&cauthor_id=29220674"
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ref="linksrc=author_name_link"
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data-ga-label="Florence Petit">Florence Petit</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service de Genetique Clinique, Centre Hospitalier Régional Lille, 59000 Lille, France." href="#short-view-affiliation-23" ref="linksrc=author_aff">
|
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23
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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=Stark+Z&cauthor_id=29220674"
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data-ga-label="Zornitza Stark">Zornitza Stark</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Victorian Clinical Genetics Services, Murdoch Children's Research Institute, VIC 3052 Melbourne, Australia." href="#short-view-affiliation-24" ref="linksrc=author_aff">
|
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24
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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=Stockler-Ipsiroglu+S&cauthor_id=29220674"
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data-ga-label="Sylvia Stockler-Ipsiroglu">Sylvia Stockler-Ipsiroglu</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Medical Genetics, University of British Columbia, BC V6T 1Z4 Vancouver, Canada." href="#short-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=Tinschert+S&cauthor_id=29220674"
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data-ga-label="Sigrid Tinschert">Sigrid Tinschert</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Zentrum Medizinische Genetik, Medical University of Innsbruck, 6020 Innsbruck, Austria." href="#short-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=Vasudevan+P&cauthor_id=29220674"
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data-ga-label="Pradeep Vasudevan">Pradeep Vasudevan</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Genetics, University Hospitals of Leicester NHS Trust, Leicester Royal Infirmary, LE1 5WW Leicester, UK." href="#short-view-affiliation-26" ref="linksrc=author_aff">
|
||
26
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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=Villa+O&cauthor_id=29220674"
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data-ga-label="Olaya Villa">Olaya Villa</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Quantitative Genomic Medicine Laboratories (qGenomics), 08950 Barcelona, Spain." href="#short-view-affiliation-8" ref="linksrc=author_aff">
|
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8
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=White+SM&cauthor_id=29220674"
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data-ga-label="Susan M White">Susan M White</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Victorian Clinical Genetics Services, Murdoch Children's Research Institute, VIC 3052 Melbourne, Australia; Department of Paediatrics, University of Melbourne, VIC 3010, Melbourne, Australia." href="#short-view-affiliation-27" ref="linksrc=author_aff">
|
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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=Zahir+FR&cauthor_id=29220674"
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data-ga-label="Farah R Zahir">Farah R Zahir</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Medical Genetics, University of British Columbia, BC V6T 1Z4 Vancouver, Canada; Qatar Biomedical Research Institute, Hamad Bin Khalifa University, 34110 Doha, Qatar." href="#short-view-affiliation-28" ref="linksrc=author_aff">
|
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28
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</a></sup><span class="semicolon">; </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=DDD+Study%5BCorporate+Author%5D"
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data-ga-label="DDD Study">DDD Study</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Wellcome Trust Sanger Institute, CB10 1SA Cambridge, UK." href="#short-view-affiliation-29" ref="linksrc=author_aff">
|
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29
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||
</a></sup><span class="semicolon">; </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Woolf+AS&cauthor_id=29220674"
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data-ga-label="Adrian S Woolf">Adrian S Woolf</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, M13 9PL, Manchester, UK; Department of Nephrology, Royal Manchester Children's Hospital, Manchester Academic Health Science Centre, M13 9WL Manchester, UK." href="#short-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=Banka+S&cauthor_id=29220674"
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data-ga-action="author_link"
|
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data-ga-label="Siddharth Banka">Siddharth Banka</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, M13 9PL Manchester, UK; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University Foundation NHS Trust, Health Innovation Manchester, M13 9WL Manchester, UK. Electronic address: siddharth.banka@manchester.ac.uk." href="#short-view-affiliation-31" ref="linksrc=author_aff">
|
||
31
|
||
</a></sup></span>
|
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|
||
<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> Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, M13 9PL Manchester, UK.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-2"
|
||
id="short-view-affiliation-2"
|
||
><sup class="key">2</sup> Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, M13 9PL Manchester, UK; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University Foundation NHS Trust, Health Innovation Manchester, M13 9WL Manchester, UK.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-3"
|
||
id="short-view-affiliation-3"
|
||
><sup class="key">3</sup> Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University Foundation NHS Trust, Health Innovation Manchester, M13 9WL Manchester, UK.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-4"
|
||
id="short-view-affiliation-4"
|
||
><sup class="key">4</sup> Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, M13 9PL, Manchester, UK.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-5"
|
||
id="short-view-affiliation-5"
|
||
><sup class="key">5</sup> East Anglian Medical Genetics Service, Department of Clinical Genetics, Addenbrooke's Hospital, CB2 0QQ, Cambridge, UK.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-6"
|
||
id="short-view-affiliation-6"
|
||
><sup class="key">6</sup> Cytogenetics Unit, Casa Sollievo della Sofferenza Hospital, 71013 San Giovanni Rotondo, Italy.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-7"
|
||
id="short-view-affiliation-7"
|
||
><sup class="key">7</sup> Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-8"
|
||
id="short-view-affiliation-8"
|
||
><sup class="key">8</sup> Quantitative Genomic Medicine Laboratories (qGenomics), 08950 Barcelona, Spain.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-9"
|
||
id="short-view-affiliation-9"
|
||
><sup class="key">9</sup> Clinical Genetics Department, Guy's Hospital, SE1 9RT London, UK.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-10"
|
||
id="short-view-affiliation-10"
|
||
><sup class="key">10</sup> Center for Human genetics, Katholieke Universiteit Leuven and University Hospital Leuven, B-3000 Leuven, Belgium.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-11"
|
||
id="short-view-affiliation-11"
|
||
><sup class="key">11</sup> Medical Genetics, Bambino Gesù Pediatric Hospital, IRCCS, 00165 Rome, Italy.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-12"
|
||
id="short-view-affiliation-12"
|
||
><sup class="key">12</sup> Department of Clinical Genetics, Nottingham City Hospital, NG5 1PB Nottingham, UK.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-13"
|
||
id="short-view-affiliation-13"
|
||
><sup class="key">13</sup> Department of Paediatrics, School of Medicine, University of Western Sydney, NSW 2751, New South Wales, Australia.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-14"
|
||
id="short-view-affiliation-14"
|
||
><sup class="key">14</sup> Department of Medical Genetics, University of British Columbia, BC V6T 1Z4 Vancouver, Canada.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-15"
|
||
id="short-view-affiliation-15"
|
||
><sup class="key">15</sup> Servicio de Pediatría, Hospital Viamed Santa Ángela de la Cruz, 41014 Sevilla, Spain.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-16"
|
||
id="short-view-affiliation-16"
|
||
><sup class="key">16</sup> West of Scotland Genetics Service, Queen Elizabeth University Hospital, G51 4TF Glasgow, UK.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-17"
|
||
id="short-view-affiliation-17"
|
||
><sup class="key">17</sup> South East of Scotland Clinical Genetic Department, Western General Hospital, EH4 2XU Edinburgh, UK.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-18"
|
||
id="short-view-affiliation-18"
|
||
><sup class="key">18</sup> Wellcome Centre for Cell-Matrix Research, Division of Cell-Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, M13 9PL Manchester, UK.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-19"
|
||
id="short-view-affiliation-19"
|
||
><sup class="key">19</sup> Service d'Anatomie Pathologique, Hôpital Pontchaillou, University Rennes 1, 35000 Rennes, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-20"
|
||
id="short-view-affiliation-20"
|
||
><sup class="key">20</sup> Service de Génétique Clinique, Centre de Référence "Maladies Rares" CLAD-Ouest, Hôpital SUD, University Rennes 1, UMR 6290, 35000 Rennes, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-21"
|
||
id="short-view-affiliation-21"
|
||
><sup class="key">21</sup> Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Western Bank, S20 1NZ Sheffield, UK.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-22"
|
||
id="short-view-affiliation-22"
|
||
><sup class="key">22</sup> Service de Cytogénétique Médicale, Centre Hospitalier Régional Clermont-Ferrand, 63000 Clermont-Ferrand, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-23"
|
||
id="short-view-affiliation-23"
|
||
><sup class="key">23</sup> Service de Genetique Clinique, Centre Hospitalier Régional Lille, 59000 Lille, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-24"
|
||
id="short-view-affiliation-24"
|
||
><sup class="key">24</sup> Victorian Clinical Genetics Services, Murdoch Children's Research Institute, VIC 3052 Melbourne, Australia.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-25"
|
||
id="short-view-affiliation-25"
|
||
><sup class="key">25</sup> Zentrum Medizinische Genetik, Medical University of Innsbruck, 6020 Innsbruck, Austria.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-26"
|
||
id="short-view-affiliation-26"
|
||
><sup class="key">26</sup> Department of Clinical Genetics, University Hospitals of Leicester NHS Trust, Leicester Royal Infirmary, LE1 5WW Leicester, UK.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-27"
|
||
id="short-view-affiliation-27"
|
||
><sup class="key">27</sup> Victorian Clinical Genetics Services, Murdoch Children's Research Institute, VIC 3052 Melbourne, Australia; Department of Paediatrics, University of Melbourne, VIC 3010, Melbourne, Australia.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-28"
|
||
id="short-view-affiliation-28"
|
||
><sup class="key">28</sup> Department of Medical Genetics, University of British Columbia, BC V6T 1Z4 Vancouver, Canada; Qatar Biomedical Research Institute, Hamad Bin Khalifa University, 34110 Doha, Qatar.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-29"
|
||
id="short-view-affiliation-29"
|
||
><sup class="key">29</sup> Wellcome Trust Sanger Institute, CB10 1SA Cambridge, UK.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-30"
|
||
id="short-view-affiliation-30"
|
||
><sup class="key">30</sup> Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, M13 9PL, Manchester, UK; Department of Nephrology, Royal Manchester Children's Hospital, Manchester Academic Health Science Centre, M13 9WL Manchester, UK.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-31"
|
||
id="short-view-affiliation-31"
|
||
><sup class="key">31</sup> Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, M13 9PL Manchester, UK; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University Foundation NHS Trust, Health Innovation Manchester, M13 9WL Manchester, UK. Electronic address: siddharth.banka@manchester.ac.uk.</li>
|
||
|
||
</ul>
|
||
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<span class="identifier pubmed">
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PMID:
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<strong class="current-id" title="PubMed ID">29220674</strong>
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DOI:
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10.1016/j.ajhg.2017.11.006
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ACTB encodes β-actin, an abundant cytoskeletal housekeeping protein. In humans, postulated gain-of-function missense mutations cause Baraitser-Winter syndrome (BRWS), characterized by intellectual disability, cortical malformations, coloboma, sensorineural deafness, and typical facial features. To date, the consequences of loss-of-function ACTB mutations have not been proven conclusively. We describe heterozygous ACTB deletions and nonsense and frameshift mutations in 33 individuals with developmental delay, apparent intellectual disability, increased frequency of internal organ malformations (including those of the heart and the renal tract), growth retardation, and a recognizable facial gestalt (interrupted wavy eyebrows, dense eyelashes, wide nose, wide mouth, and a prominent chin) that is distinct from characteristics of individuals with BRWS. Strikingly, this spectrum overlaps with that of several chromatin-remodeling developmental disorders. In wild-type mouse embryos, β-actin expression was prominent in the kidney, heart, and brain. ACTB mRNA expression levels in lymphoblastic lines and fibroblasts derived from affected individuals were decreased in comparison to those in control cells. Fibroblasts derived from an affected individual and ACTB siRNA knockdown in wild-type fibroblasts showed altered cell shape and migration, consistent with known roles of cytoplasmic β-actin. We also demonstrate that ACTB haploinsufficiency leads to reduced cell proliferation, altered expression of cell-cycle genes, and decreased amounts of nuclear, but not cytoplasmic, β-actin. In conclusion, we show that heterozygous loss-of-function ACTB mutations cause a distinct pleiotropic malformation syndrome with intellectual disability. Our biological studies suggest that a critically reduced amount of this protein alters cell shape, migration, proliferation, and gene expression to the detriment of brain, heart, and kidney development.
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ACTB; chromatin; developmental disorder; malformations; β-actin.
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Copyright © 2017 The Author(s). Published by Elsevier Inc. All rights reserved.
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<div class="figure-caption-contents"><i> ACTB </i> Loss-of-Function Mutations Result in…</div>
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<div class="figure-caption-contents"><i> ACTB </i> Loss-of-Function Mutations Result in Reduced Expression (A) Discovery cohort—a representation of chromosome…</div>
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Figure 1
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<div class="figure-caption-contents"><i>ACTB</i> Loss-of-Function Mutations Result in Reduced Expression (A) Discovery cohort—a representation of chromosome 7 with four small 7p22.1 deletions identified in the discovery cohort. The red bars represent the extent of genomic deletions, and the associated family number is linked to Table 1. (B) Validation cohort—the 19 small 7p22.1 deletions identified in the validation cohort. The red bars represent the extent of genomic deletions, and the associated family number is linked to Table 1. (C) Intragenic <i>ACTB</i> mutations—the location of the known protein-coding genes on 7p22.1 are shown in blue boxes. <i>ACTB</i> is highlighted by two flanking dashed blue lines. The lower panel shows the exon structure of <i>ACTB.</i> The boxes represent the <i>ACTB</i> exons, and the blue arrows denote the introns. Note that ACTB is transcribed from the reverse strand. The filled (blue) and unfilled sections of the exons denote translated and untranslated regions of the gene, respectively. Location of mutations in the three affected individuals is shown with red arrows—one with a small frameshift deletion (XXIV: p.Ser368LeufsTer13), one with a nonsense mutation (XXV: p.Lys373Ter) and one with <i>de novo</i> frameshift mutation (XXVI: p.Leu110ArgfsTer10). The transcript ID is NM_001101.3. (D) <i>ACTB</i> loss-of-function mutations result in reduced gene expression—quantitative real-time polymerase chain reaction (qRT-PCR) analysis of <i>ACTB</i> transcript levels relative to <i>GAPDH</i> in fibroblasts, LCL and blood samples (sample P1 is from IVa, P2 is from XI, P3 is from II, and P4 is from XXII). Cells were collected by centrifugation, and total RNAs were extracted with the RNeasy Mini kit (QIAGEN) according to the manufacturer’s protocol. The qRT-PCR reactions were performed on a Bio-Rad CFX394 Real-Time system (Bio-Rad) with Power SYBR Green PCR Master mix (Applied Biosystems). The expression of each target gene was evaluated via a relative quantification approach (-ΔCT method), and <i>GAPDH</i> was used as the internal reference for human genes.</div>
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<div class="figure-caption-contents"><i> ACTB </i> Loss-of-Function Mutations Result in…</div>
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<div class="figure-caption-contents"><i> ACTB </i> Loss-of-Function Mutations Result in a Recognizable Phenotype (A) Facial gestalt and physical…</div>
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Figure 2
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<div class="figure-caption-contents"><i>ACTB</i> Loss-of-Function Mutations Result in a Recognizable Phenotype (A) Facial gestalt and physical anomalies with <i>ACTB</i> loss-of-function mutations—the facial features of a number of individuals who had 7p22.1 deletions or point mutations (marked with <sup>∗</sup>) in <i>ACTB</i> were remarkably similar to each other; they had wavy interrupted eyebrows, dense eyelashes, a wide nose, a wide mouth, and a prominent chin. Several affected individuals in this cohort demonstrated overlapping toes, small nails, and spinal anomalies such as sacral dimples. (B) Immunohistochemistry of embryonic day 14 mice. The top row shows β-actin immunostaining (brown) in neurons in the brain (neocortex), epithelia of kidney tubules (S-shaped body), and the heart (endocardium and cardiac outflow). The bottom row shows sections with primary antibody omitted so that the specificity of the above signals is shown. Whole embryos at day 14 (E14) were fixed in 4% paraformaldehyde and embedded in paraffin. Sections of 5 μm were cut and mounted on polylysine-coated glass slides. Endogenous peroxidase was quenched by incubation with hydrogen peroxide (0.3% solution in PBS). Embryos were heated at 95°C for 5 minutes in sodium citrate (pH 6) for antigen exposure. Rabbit anti-β-actin (1:250, Abcam ab8227) was applied to tissue sections over night at 4°C. Goat anti-rabbit (1:200) was applied for 1 hr at room temperature and revealed with the ABC Elite kit (Vector) followed by DAB staining (Vector) and hematoxylin counter-stain (scale bar: 50 μm).</div>
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<p> Figure 3 </p>
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<div class="figure-caption-contents"><i> ACTB </i> Loss-of-Function Mutations Induce Abnormalities…</div>
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<p> Figure 3 </p>
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<div class="figure-caption-contents"><i> ACTB </i> Loss-of-Function Mutations Induce Abnormalities of Cellular Morphology and Reduced Migration (A) Immunoblots…</div>
|
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Figure 3
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<div class="figure-caption-contents"><i>ACTB</i> Loss-of-Function Mutations Induce Abnormalities of Cellular Morphology and Reduced Migration (A) Immunoblots of cytoplasmic β-actin. No consistent differences were detected in the cytoplasmic β-actin amounts in the fibroblasts and LCLs of affected individuals versus controls (sample P1 is from IVa, P2 is from XI, P3 is from II, and P4 is from XXII). Immunoblotting for β-actin was performed on the cytoplasmic protein fraction, and GAPDH was used as a loading control. Protein samples were isolated using NE-PER nuclear and cytoplasmic extraction reagents (ThermoScientific). 8–10 mg of protein extracts were loaded into the polyacrylamide gel Bolt 10% Bis-Tris Plus Gels (Invitrogen). The membranes were incubated with specific anti-beta actin (ab8227, Abcam) and anti-GAPDH (5174S, Cell Signaling) overnight at 4°C. After washes, the membranes were incubated with a secondary fluorescently labeled goat anti-rabbit antibody (IRDye 800CW Li-Cor), and signal was developed with an Odyssey CLX imaging machine. (B) Fibroblast morphology. <i>ACTB</i>-deficient cells were found to be significantly more circular than non-deficient cells. Phalloidin and DAPI immunostaining was performed in wild-type fibroblasts transfected with 30 nM control siRNA (ON-TARGETplus non-targeting pool, Fisher) and <i>ACTB</i> siRNA (SMARTpool ON TARGET plus ACTB siRNA, Dharmacon) and affected-individual fibroblasts transfected with control siRNA. Cells were fixed with 4% paraformaldehyde for 15 minutes at room temperature. After blocking solution was washed out, antibody Texas Red-X Phalloidin (T7471, Life Technologies) was applied for 1 hr at room temperature in the dark. Samples were stained with DAPI (4083S, Cell Signaling Technology) for 5 min. Representative pictures show marked difference in the morphology of β-actin-deficient cells (scale bar: 50 μm). Enlargement of cells is shown in the lower panels. Dashed lines show the outline of the cell boundary. The left bar chart shows that there was no significant difference in the area of each of the cell groups (in μm<sup>2</sup>) as calculated with ImageJ software. The right bar chart shows the increased circularity of the <i>ACTB</i>-deficient fibroblasts as calculated with ImageJ software (n = 4; <sup>∗∗</sup>p < 0.01). Values of 1 and 0 stand for a perfect circle and a line, respectively. Error bars indicate mean ± 1 SD. (C) Fibroblast migration. <i>ACTB</i>-deficient cells had impaired migration. A migration assay was performed in wild-type fibroblasts transfected with control siRNA and <i>ACTB</i> siRNA and affected-individual fibroblasts transfected with control siRNA. 96 hr after transfection, a wound was generated in the confluent monolayer of fibroblasts via a p200 pipet tip. Cells were washed with phosphate-buffered saline so that any debris created by the wound would be removed. The first image of the wound was taken with a phase-contrast microscope, and marking the plate under the capture image field created a reference point. Cells were incubated at 37°C in a humidified 5% CO<sub>2</sub> incubator for 2 days. After the incubation time, a second image was taken. For quantifying the migration of cells, the cells that crossed into the wound area were counted. Representative pictures show reduced migration in β-actin-deficient cells (scale bar: 100 μm). The bar chart shows that the numbers of cells in the central wound area are significantly lower in the β-actin-deficient cells. Data are shown as the mean of absolute cell numbers at 144 hours from two wells of two independent experiments (n = 4; <sup>∗</sup>p < 0.05, <sup>∗∗</sup>p < 0.01). Error bars indicate mean ± 1 SD.</div>
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|
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|
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<div class="figure-caption-contents"><i> ACTB </i> Loss-of-Function Mutations Lead to…</div>
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<div class="figure-caption-contents"><i> ACTB </i> Loss-of-Function Mutations Lead to Reduced Expression of β-actin in the Nucleus, Reduced…</div>
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<div class="figure-caption-contents"><i>ACTB</i> Loss-of-Function Mutations Lead to Reduced Expression of β-actin in the Nucleus, Reduced Cell Proliferation, and Dysregulation of Cell-Cycle Genes (A) Immunoblots of nuclear β-actin. Nuclear β-actin amounts in fibroblasts and LCLs from affected individuals were consistently lower than those of their respective controls (sample P1 is from IVa, P2 is from XI, P3 is from II, and P4 is from XXII). Immunoblotting for β-actin (ab8227, Abcam) was performed on the nuclear protein fraction with histone 3 (ab1791, Abcam) as a loading control. Visual inspection of the membranes and their intensity quantification revealed a consistent trend of decreased amounts of nuclear β-actin in fibroblasts and LCLs from affected individuals versus controls (sample P1 is from IVa, P2 is from XI, P3 is from II, and P4 is from XXII). (B) Fibroblast and LCL proliferation. Proliferation in cells derived from affected individuals was found to be significantly reduced. Quantification of the number of fibroblasts and LCLs was performed in a 12-well plate. Cells were plated in the presence of their growth medium and counted with a hemocytometer every 3 days for 9 days. Fibroblasts and LCLs from affected individuals proliferated significantly slowly in comparison with the control cells. Data are shown as the mean of absolute cell number from three wells of three independent experiments (n = 3; <sup>∗</sup>p < 0.05, <sup>∗∗</sup>p < 0.01). Error bars indicate mean ± 1 SD. (C) Expression of cell-cycle genes in LCLs. Cell-cycle genes were dysregulated in LCLs from affected individuals. The abundance of selected mRNAs in LCLs derived from individuals XI (P2) and XXII (P4) is shown relative to mean amounts in LCLs in two control individuals; measurements are in FPKM (fragments per kilo base of transcript per million mapped reads). Libraries were prepared for sequencing with the NEBNext Ultra Directional RNA Library Prep Kit for Illumina (New England Biolabs) according to the manufacturer’s instructions. Sequencing of a single 75 bp read was carried out on a NextSeq 500 sequencer (Illumina) according to the manufacturer’s protocols. An average of 34.9 million reads was generated per sample. For each sample, the RNA-Seq reads were aligned to the human reference GRCh37 with Tophat v2.1.0. Cufflinks v2.2.2 was used for assembling the aligned reads against UCSC hg19_refgene transcripts and for generating the relative expression levels, measured as FPKM, for each transcript within each sample. The expression of <i>CCND1</i> is more than 11-fold higher in cells of affected individuals than in controls. The expression of a majority of genes expressed in S and G2 phase is reduced in cells of affected individuals.</div>
|
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|
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Coe B.P., Witherspoon K., Rosenfeld J.A., van Bon B.W., Vulto-van Silfhout A.T., Bosco P., Friend K.L., Baker C., Buono S., Vissers L.E. Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nat. Genet. 2014;46:1063–1071.
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|
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|
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|
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|
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<a
|
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class="reference-link"
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href="https://pmc.ncbi.nlm.nih.gov/articles/PMC4177294/"
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Yagi H., Furutani Y., Hamada H., Sasaki T., Asakawa S., Minoshima S., Ichida F., Joo K., Kimura M., Imamura S. Role of TBX1 in human del22q11.2 syndrome. Lancet. 2003;362:1366–1373.
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<div id="mesh-terms" class="mesh-terms keywords-section">
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<h2 class="title">
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MeSH terms
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data-ga-label=""Cell Proliferation/genetics"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Child"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-9"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Child
|
||
</button><div id="keyword-actions-mesh-terms-9"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Child"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Child%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Child%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Child"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Child">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Child"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Child">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Child"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Child"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Child, Preschool"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-10"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Child, Preschool
|
||
</button><div id="keyword-actions-mesh-terms-10"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Child, Preschool"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Child%2C+Preschool%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Child%2C+Preschool%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Child, Preschool"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Child, Preschool">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Child%2C+Preschool"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Child, Preschool">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Child, Preschool"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Child, Preschool"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Codon, Nonsense / genetics"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-11"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Codon, Nonsense / genetics
|
||
</button><div id="keyword-actions-mesh-terms-11"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Codon, Nonsense / genetics"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Codon%2C+Nonsense%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Codon%2C+Nonsense%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Codon, Nonsense/genetics"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Codon, Nonsense / genetics">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Codon%2C+Nonsense"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Codon, Nonsense / genetics">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Codon, Nonsense/genetics"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Codon, Nonsense/genetics"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Coloboma / genetics"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-12"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Coloboma / genetics
|
||
</button><div id="keyword-actions-mesh-terms-12"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Coloboma / genetics"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Coloboma%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Coloboma%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Coloboma/genetics"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Coloboma / genetics">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Coloboma"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Coloboma / genetics">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Coloboma/genetics"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Coloboma/genetics"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major"
|
||
aria-label="Toggle dropdown menu for keyword Developmental Disabilities / genetics*"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-major-13"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Developmental Disabilities / genetics*
|
||
</button><div id="keyword-actions-mesh-terms-major-13"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
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"
|
||
href="/?term=%22Developmental+Disabilities%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Developmental+Disabilities%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Developmental Disabilities/genetics"[MAJR]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Developmental Disabilities / genetics*">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Developmental+Disabilities"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Developmental Disabilities / genetics*">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Developmental Disabilities/genetics"[MAJR]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Developmental Disabilities/genetics"[MAJR]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Facies"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-14"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Facies
|
||
</button><div id="keyword-actions-mesh-terms-14"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Facies"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Facies%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Facies%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Facies"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Facies">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Facies"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Facies">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Facies"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Facies"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Female"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-15"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Female
|
||
</button><div id="keyword-actions-mesh-terms-15"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
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"
|
||
href="/?term=%22Female%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Female%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Female"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Female">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Female"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Female">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Female"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Female"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Frameshift Mutation / genetics"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-16"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Frameshift Mutation / genetics
|
||
</button><div id="keyword-actions-mesh-terms-16"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Frameshift Mutation / genetics"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Frameshift+Mutation%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Frameshift+Mutation%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Frameshift Mutation/genetics"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Frameshift Mutation / genetics">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Frameshift+Mutation"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Frameshift Mutation / genetics">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Frameshift Mutation/genetics"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Frameshift Mutation/genetics"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Gene Deletion"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-17"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Gene Deletion
|
||
</button><div id="keyword-actions-mesh-terms-17"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Gene Deletion"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Gene+Deletion%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Gene+Deletion%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Gene Deletion"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Gene Deletion">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Gene+Deletion"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Gene Deletion">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Gene Deletion"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Gene Deletion"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major"
|
||
aria-label="Toggle dropdown menu for keyword Haploinsufficiency / genetics*"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-major-18"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Haploinsufficiency / genetics*
|
||
</button><div id="keyword-actions-mesh-terms-major-18"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Haploinsufficiency / genetics*"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Haploinsufficiency%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Haploinsufficiency%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Haploinsufficiency/genetics"[MAJR]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Haploinsufficiency / genetics*">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Haploinsufficiency"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Haploinsufficiency / genetics*">
|
||
Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Haploinsufficiency/genetics"[MAJR]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Haploinsufficiency/genetics"[MAJR]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Humans"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-19"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Humans
|
||
</button><div id="keyword-actions-mesh-terms-19"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
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"
|
||
href="/?term=%22Humans%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Humans%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Humans"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Humans">
|
||
Search in PubMed
|
||
</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
||
ref="linksrc=search_in_mesh_link"
|
||
href="https://www.ncbi.nlm.nih.gov/mesh?term=Humans"
|
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data-ga-category="search_mesh"
|
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data-ga-action="mesh_term_link"
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data-ga-label="Humans">
|
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Search in MeSH
|
||
</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=""Humans"[MeSH]"
|
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data-ga-category="search"
|
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data-ga-action="add_to_search"
|
||
data-ga-label=""Humans"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword Infant"
|
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tabindex="0"
|
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aria-controls="keyword-actions-mesh-terms-20"
|
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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-20"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
||
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"
|
||
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-category="search"
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data-ga-action="mesh_term"
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data-ga-label="Infant">
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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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ref="linksrc=search_in_mesh_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-action="mesh_term_link"
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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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ref="linksrc=add_to_search_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-controls="keyword-actions-mesh-terms-21"
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aria-expanded="false"
|
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data-pinger-ignore>
|
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Infant, Newborn
|
||
</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 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"
|
||
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-ga-label="Infant, Newborn">
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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%2C+Newborn"
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data-ga-action="mesh_term_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=""Infant, Newborn"[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, Newborn"[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 Intellectual Disability / 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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Intellectual Disability / genetics
|
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</button><div id="keyword-actions-mesh-terms-22"
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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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data-ga-label=""Intellectual Disability/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 Male"
|
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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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Male
|
||
</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 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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data-ga-category="search"
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data-ga-action="mesh_term"
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data-ga-label="Male">
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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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ref="linksrc=search_in_mesh_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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data-ga-action="mesh_term_link"
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data-ga-label="Male">
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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=""Male"[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=""Male"[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 Malformations of Cortical Development / genetics"
|
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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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Malformations of Cortical Development / genetics
|
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</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 Malformations of Cortical Development / 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=%22Malformations+of+Cortical+Development%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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data-href="/?term=%22Malformations+of+Cortical+Development%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Malformations of Cortical Development/genetics"[MeSH]"
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Search in PubMed
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href="https://www.ncbi.nlm.nih.gov/mesh?term=Malformations+of+Cortical+Development"
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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=""Malformations of Cortical Development/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=""Malformations of Cortical Development/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"
|
||
aria-label="Toggle dropdown menu for keyword Mice"
|
||
tabindex="0"
|
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aria-controls="keyword-actions-mesh-terms-25"
|
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aria-expanded="false"
|
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data-pinger-ignore>
|
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Mice
|
||
</button><div id="keyword-actions-mesh-terms-25"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
||
aria-label="Dropdown menu for keyword Mice"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Mice%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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data-href="/?term=%22Mice%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Mice"[MeSH]"
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data-ga-category="search"
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data-ga-action="mesh_term"
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data-ga-label="Mice">
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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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ref="linksrc=search_in_mesh_link"
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href="https://www.ncbi.nlm.nih.gov/mesh?term=Mice"
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data-ga-category="search_mesh"
|
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data-ga-action="mesh_term_link"
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data-ga-label="Mice">
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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=""Mice"[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=""Mice"[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 RNA Interference"
|
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tabindex="0"
|
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aria-controls="keyword-actions-mesh-terms-26"
|
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aria-expanded="false"
|
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data-pinger-ignore>
|
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RNA Interference
|
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</button><div id="keyword-actions-mesh-terms-26"
|
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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 RNA Interference"><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=%22RNA+Interference%22%5BMeSH%5D&sort=date&sort_order=desc"
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data-href="/?term=%22RNA+Interference%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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ref="linksrc=search_in_pubmed_keyword_link&mesh="RNA Interference"[MeSH]"
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data-ga-category="search"
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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=RNA+Interference"
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data-ga-action="mesh_term_link"
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data-ga-label="RNA Interference">
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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=""RNA Interference"[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=""RNA Interference"[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"
|
||
aria-label="Toggle dropdown menu for keyword RNA, Small Interfering / genetics"
|
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tabindex="0"
|
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aria-controls="keyword-actions-mesh-terms-27"
|
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aria-expanded="false"
|
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data-pinger-ignore>
|
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RNA, Small Interfering / genetics
|
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</button><div id="keyword-actions-mesh-terms-27"
|
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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 RNA, Small Interfering / 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=%22RNA%2C+Small+Interfering%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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data-href="/?term=%22RNA%2C+Small+Interfering%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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ref="linksrc=search_in_pubmed_keyword_link&mesh="RNA, Small Interfering/genetics"[MeSH]"
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data-ga-category="search"
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data-ga-action="mesh_term"
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data-ga-label="RNA, Small Interfering / genetics">
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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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ref="linksrc=search_in_mesh_link"
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href="https://www.ncbi.nlm.nih.gov/mesh?term=RNA%2C+Small+Interfering"
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data-ga-category="search_mesh"
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data-ga-action="mesh_term_link"
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data-ga-label="RNA, Small Interfering / genetics">
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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=""RNA, Small Interfering/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=""RNA, Small Interfering/genetics"[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 Young Adult"
|
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tabindex="0"
|
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aria-controls="keyword-actions-mesh-terms-28"
|
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aria-expanded="false"
|
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data-pinger-ignore>
|
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Young Adult
|
||
</button><div id="keyword-actions-mesh-terms-28"
|
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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 Young Adult"><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=%22Young+Adult%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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data-href="/?term=%22Young+Adult%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Young Adult"[MeSH]"
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data-ga-category="search"
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data-ga-action="mesh_term"
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data-ga-label="Young Adult">
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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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ref="linksrc=search_in_mesh_link"
|
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href="https://www.ncbi.nlm.nih.gov/mesh?term=Young+Adult"
|
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data-ga-category="search_mesh"
|
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data-ga-action="mesh_term_link"
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data-ga-label="Young Adult">
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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=""Young Adult"[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=""Young Adult"[MeSH]"
|
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href="#">
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Add to Search
|
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</a></li></ul></div></div></div></li></ul>
|
||
</div>
|
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|
||
|
||
|
||
|
||
|
||
<div id="substances" class="substances keywords-section">
|
||
<h2 class="title">
|
||
Substances
|
||
</h2>
|
||
|
||
<ul class="keywords-list"><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 ACTC1 protein, human"
|
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tabindex="0"
|
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aria-controls="keyword-actions-substances-0"
|
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aria-expanded="false"
|
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data-pinger-ignore>
|
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ACTC1 protein, human
|
||
</button><div id="keyword-actions-substances-0"
|
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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 ACTC1 protein, human"><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=%22ACTC1+protein%2C+human%22%5Bnm%5D&sort=date&sort_order=desc"
|
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data-href="/?term=%22ACTC1+protein%2C+human%22%5Bnm%5D&sort=date&sort_order=desc"
|
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ref="linksrc=search_in_pubmed_keyword_link&keyword="ACTC1 protein, human"[nm]"
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data-ga-category="search"
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data-ga-action="substance"
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data-ga-label="ACTC1 protein, human">
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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=%22ACTC1+protein%2C+human%22"
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data-ga-category="search_mesh"
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data-ga-action="substance_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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role="button"
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data-search-term=""ACTC1 protein, human"[nm]"
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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=""ACTC1 protein, human"[nm]"
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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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