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|
||
<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%2F28940097%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%2F28940097%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="OB9SlKslSdE27arRbGozNTR8QVkLSuOt5oTXYAVHsOrw1BxHOZ1Bh1nMoZ2XL5mN">
|
||
</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="OB9SlKslSdE27arRbGozNTR8QVkLSuOt5oTXYAVHsOrw1BxHOZ1Bh1nMoZ2XL5mN">
|
||
|
||
|
||
|
||
<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="OB9SlKslSdE27arRbGozNTR8QVkLSuOt5oTXYAVHsOrw1BxHOZ1Bh1nMoZ2XL5mN">
|
||
|
||
<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: 28940097 - PubMed</span>
|
||
<input type="hidden" name="email-subject" value="1 selected item: 28940097"/>
|
||
<input type="hidden" name="email-subject-hash" value="fb8f71ae202eae8c224d4883e2cbb0ce67d6a50964de79ea8af20402380939b7"/>
|
||
</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="OB9SlKslSdE27arRbGozNTR8QVkLSuOt5oTXYAVHsOrw1BxHOZ1Bh1nMoZ2XL5mN">
|
||
|
||
|
||
|
||
<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="OB9SlKslSdE27arRbGozNTR8QVkLSuOt5oTXYAVHsOrw1BxHOZ1Bh1nMoZ2XL5mN">
|
||
|
||
|
||
|
||
<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="OB9SlKslSdE27arRbGozNTR8QVkLSuOt5oTXYAVHsOrw1BxHOZ1Bh1nMoZ2XL5mN">
|
||
|
||
<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="OB9SlKslSdE27arRbGozNTR8QVkLSuOt5oTXYAVHsOrw1BxHOZ1Bh1nMoZ2XL5mN">
|
||
|
||
|
||
|
||
<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="OB9SlKslSdE27arRbGozNTR8QVkLSuOt5oTXYAVHsOrw1BxHOZ1Bh1nMoZ2XL5mN">
|
||
|
||
<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="28940097">
|
||
<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://dx.doi.org/10.1007/s00439-017-1843-2"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=False&PrId=3055&itool=Abstract-def&log$=linkouticon&uid=28940097&db=pubmed&nlmid=7613873"
|
||
title="See full text options at Springer"
|
||
|
||
data-ga-category="full_text"
|
||
data-ga-action="Springer"
|
||
data-ga-label="28940097"
|
||
><img src="https://cdn.ncbi.nlm.nih.gov/corehtml/query/egifs/http:--production.springer.de-OnlineResources-Logos-springerlink.gif" alt="Springer full text link"><span class="text">
|
||
|
||
Springer
|
||
|
||
</span></a><a class="link-item
|
||
|
||
"
|
||
href="https://core.ac.uk/reader/111040852?utm_source=linkout"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=False&PrId=10178&itool=Abstract-nondef&log$=linkouticon&uid=28940097&db=pubmed&nlmid=7613873"
|
||
title="See full text options at CORE"
|
||
|
||
data-ga-category="full_text"
|
||
data-ga-action="CORE"
|
||
data-ga-label="28940097"
|
||
><img src="https://cdn.ncbi.nlm.nih.gov/corehtml/query/egifs/https:--core.ac.uk-resources-pmc-linkout-button.png" alt="CORE full text link"><span class="text">
|
||
|
||
CORE
|
||
|
||
</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="/28940097/citations/"
|
||
data-citation-style="nlm"
|
||
data-pubmed-format-link="/28940097/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="28940097" 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%2F28940097%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="OB9SlKslSdE27arRbGozNTR8QVkLSuOt5oTXYAVHsOrw1BxHOZ1Bh1nMoZ2XL5mN"><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"
|
||
ref="linksrc=more_actions_btn"></button><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"
|
||
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Expanding the genetic heterogeneity of intellectual disability
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data-ga-label="Mais Hashem">Mais Hashem</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia." href="#full-view-affiliation-1" ref="linksrc=author_aff">
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1
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data-ga-label="Nadia Alhashmi">Nadia Alhashmi</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, College of Medicine, Sultan Qaboos University, Muscat, Sultanate of Oman." href="#full-view-affiliation-5" ref="linksrc=author_aff">
|
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5
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Fathiya Al Murshedi">Fathiya Al Murshedi</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, College of Medicine, Sultan Qaboos University, Muscat, Sultanate of Oman." href="#full-view-affiliation-5" ref="linksrc=author_aff">
|
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5
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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="Adila Al Kindy">Adila Al Kindy</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, College of Medicine, Sultan Qaboos University, Muscat, Sultanate of Oman." href="#full-view-affiliation-5" ref="linksrc=author_aff">
|
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5
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Ahmad Alshaer">Ahmad Alshaer</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Pediatric Neurology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia." href="#full-view-affiliation-6" ref="linksrc=author_aff">
|
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6
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Ahmed Rumayyan">Ahmed Rumayyan</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia." href="#full-view-affiliation-7" ref="linksrc=author_aff">
|
||
7
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Neurology Division, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia." href="#full-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=Al+Tala+S&cauthor_id=28940097"
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data-ga-label="Saeed Al Tala">Saeed Al Tala</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics and Genetic Unit, Armed Forces Hospital, Khamis Mushayt, Saudi Arabia." href="#full-view-affiliation-9" ref="linksrc=author_aff">
|
||
9
|
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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=Kurdi+W&cauthor_id=28940097"
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data-ga-label="Wesam Kurdi">Wesam Kurdi</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Obstetrics and Gynecology, King Faisal Specialist Hospital, Riyadh, Saudi Arabia." href="#full-view-affiliation-10" ref="linksrc=author_aff">
|
||
10
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Alsaman+A&cauthor_id=28940097"
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data-ga-label="Abdulaziz Alsaman">Abdulaziz Alsaman</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatric Subspecialties, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia." href="#full-view-affiliation-11" ref="linksrc=author_aff">
|
||
11
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Alasmari+A&cauthor_id=28940097"
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data-ga-label="Ali Alasmari">Ali Alasmari</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatric Subspecialties, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia." href="#full-view-affiliation-11" ref="linksrc=author_aff">
|
||
11
|
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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=Banu+S&cauthor_id=28940097"
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data-ga-label="Selina Banu">Selina Banu</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatric Neurology, ICH and SSF Hospital Mirpur, Dhaka, 1216, Bangladesh." href="#full-view-affiliation-12" ref="linksrc=author_aff">
|
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12
|
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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=Sultan+T&cauthor_id=28940097"
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data-ga-label="Tipu Sultan">Tipu Sultan</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatric Neurology, Institute of Child Health and The Children's Hospital Lahore, 381-D/2, Lahore, Pakistan." href="#full-view-affiliation-13" ref="linksrc=author_aff">
|
||
13
|
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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=Saleh+MM&cauthor_id=28940097"
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data-ga-label="Mohammed M Saleh">Mohammed M Saleh</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatric Subspecialties, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia." href="#full-view-affiliation-11" ref="linksrc=author_aff">
|
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11
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Alkuraya+H&cauthor_id=28940097"
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data-ga-label="Hisham Alkuraya">Hisham Alkuraya</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Ophthalmology, Specialized Medical Center Hospital, Riyadh, Saudi Arabia." href="#full-view-affiliation-14" ref="linksrc=author_aff">
|
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14
|
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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=Salih+MA&cauthor_id=28940097"
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data-ga-label="Mustafa A Salih">Mustafa A Salih</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Pediatric Neurology, Department of Pediatrics, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia." href="#full-view-affiliation-15" ref="linksrc=author_aff">
|
||
15
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Aldhalaan+H&cauthor_id=28940097"
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data-ga-label="Hesham Aldhalaan">Hesham Aldhalaan</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Pediatric Neurology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia." href="#full-view-affiliation-6" ref="linksrc=author_aff">
|
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6
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Ben-Omran+T&cauthor_id=28940097"
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data-ga-label="Tawfeg Ben-Omran">Tawfeg Ben-Omran</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar." href="#full-view-affiliation-16" ref="linksrc=author_aff">
|
||
16
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Al+Musafri+F&cauthor_id=28940097"
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data-ga-label="Fatima Al Musafri">Fatima Al Musafri</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar." href="#full-view-affiliation-16" ref="linksrc=author_aff">
|
||
16
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Ali+R&cauthor_id=28940097"
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data-ga-label="Rehab Ali">Rehab Ali</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar." href="#full-view-affiliation-16" ref="linksrc=author_aff">
|
||
16
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Suleiman+J&cauthor_id=28940097"
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data-ga-label="Jehan Suleiman">Jehan Suleiman</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Neurology, Department of Pediatrics, Tawam Hospital, Al Ain, United Arab Emirates." href="#full-view-affiliation-17" ref="linksrc=author_aff">
|
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17
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Tabarki+B&cauthor_id=28940097"
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data-ga-label="Brahim Tabarki">Brahim Tabarki</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia." href="#full-view-affiliation-4" ref="linksrc=author_aff">
|
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4
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=El-Hattab+AW&cauthor_id=28940097"
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data-ga-label="Ayman W El-Hattab">Ayman W El-Hattab</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Clinical Genetics and Metabolic Disorders, Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates." href="#full-view-affiliation-18" ref="linksrc=author_aff">
|
||
18
|
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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=Bupp+C&cauthor_id=28940097"
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data-ga-label="Caleb Bupp">Caleb Bupp</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Spectrum Health Genetics, Grand Rapids, MI, USA." href="#full-view-affiliation-19" ref="linksrc=author_aff">
|
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19
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Alfadhel+M&cauthor_id=28940097"
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data-ga-label="Majid Alfadhel">Majid Alfadhel</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Genetics Division, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia." 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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href="/?term=Al+Tassan+N&cauthor_id=28940097"
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data-ga-label="Nada Al Tassan">Nada Al Tassan</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia." href="#full-view-affiliation-1" ref="linksrc=author_aff">
|
||
1
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia." href="#full-view-affiliation-21" ref="linksrc=author_aff">
|
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21
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Monies+D&cauthor_id=28940097"
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data-ga-label="Dorota Monies">Dorota Monies</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia." href="#full-view-affiliation-1" ref="linksrc=author_aff">
|
||
1
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia." href="#full-view-affiliation-21" ref="linksrc=author_aff">
|
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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=Arold+ST&cauthor_id=28940097"
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data-ga-label="Stefan T Arold">Stefan T Arold</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Biological and Environmental Sciences and Engineering (BESE), Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, 23955-6900, Saudi Arabia." href="#full-view-affiliation-22" ref="linksrc=author_aff">
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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=Abouelhoda+M&cauthor_id=28940097"
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data-ga-label="Mohamed Abouelhoda">Mohamed Abouelhoda</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia." href="#full-view-affiliation-1" ref="linksrc=author_aff">
|
||
1
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia." href="#full-view-affiliation-21" ref="linksrc=author_aff">
|
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21
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Lashley+T&cauthor_id=28940097"
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data-ga-label="Tammaryn Lashley">Tammaryn Lashley</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Queen Square Brain Bank for Neurological Disorders, Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London, UK." href="#full-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=Houlden+H&cauthor_id=28940097"
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data-ga-label="Henry Houlden">Henry Houlden</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK." href="#full-view-affiliation-2" ref="linksrc=author_aff">
|
||
2
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Faqeih+E&cauthor_id=28940097"
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data-ga-label="Eissa Faqeih">Eissa Faqeih</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatric Subspecialties, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia." href="#full-view-affiliation-11" ref="linksrc=author_aff">
|
||
11
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Alkuraya+FS&cauthor_id=28940097"
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data-ga-label="Fowzan S Alkuraya">Fowzan S Alkuraya</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa." href="#full-view-affiliation-23" ref="linksrc=author_aff">
|
||
23
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa." href="#full-view-affiliation-24" ref="linksrc=author_aff">
|
||
24
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa." href="#full-view-affiliation-25" ref="linksrc=author_aff">
|
||
25
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Spectrum Health Genetics, Grand Rapids, MI, USA. falkuraya@kfshrc.edu.sa." href="#full-view-affiliation-26" ref="linksrc=author_aff">
|
||
26
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Biological and Environmental Sciences and Engineering (BESE), King Abdullah University of Science and Technology (KAUST), Thuwal, 23955-6900, Saudi Arabia. falkuraya@kfshrc.edu.sa." href="#full-view-affiliation-27" ref="linksrc=author_aff">
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27
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<li data-affiliation-id="full-view-affiliation-1"
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><sup class="key">1</sup> Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.</li>
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<li data-affiliation-id="full-view-affiliation-2"
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><sup class="key">2</sup> Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.</li>
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<li data-affiliation-id="full-view-affiliation-3"
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<li data-affiliation-id="full-view-affiliation-4"
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><sup class="key">4</sup> Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.</li>
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<li data-affiliation-id="full-view-affiliation-5"
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<li data-affiliation-id="full-view-affiliation-6"
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<li data-affiliation-id="full-view-affiliation-8"
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id="full-view-affiliation-8"
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><sup class="key">8</sup> Neurology Division, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.</li>
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<li data-affiliation-id="full-view-affiliation-9"
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id="full-view-affiliation-9"
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><sup class="key">9</sup> Department of Pediatrics and Genetic Unit, Armed Forces Hospital, Khamis Mushayt, Saudi Arabia.</li>
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<li data-affiliation-id="full-view-affiliation-10"
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id="full-view-affiliation-10"
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><sup class="key">10</sup> Department of Obstetrics and Gynecology, King Faisal Specialist Hospital, Riyadh, Saudi Arabia.</li>
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<li data-affiliation-id="full-view-affiliation-11"
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><sup class="key">11</sup> Department of Pediatric Subspecialties, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.</li>
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<li data-affiliation-id="full-view-affiliation-12"
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id="full-view-affiliation-12"
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><sup class="key">12</sup> Department of Pediatric Neurology, ICH and SSF Hospital Mirpur, Dhaka, 1216, Bangladesh.</li>
|
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<li data-affiliation-id="full-view-affiliation-13"
|
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id="full-view-affiliation-13"
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><sup class="key">13</sup> Department of Pediatric Neurology, Institute of Child Health and The Children's Hospital Lahore, 381-D/2, Lahore, Pakistan.</li>
|
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<li data-affiliation-id="full-view-affiliation-14"
|
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id="full-view-affiliation-14"
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><sup class="key">14</sup> Department of Ophthalmology, Specialized Medical Center Hospital, Riyadh, Saudi Arabia.</li>
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<li data-affiliation-id="full-view-affiliation-15"
|
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id="full-view-affiliation-15"
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><sup class="key">15</sup> Division of Pediatric Neurology, Department of Pediatrics, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia.</li>
|
||
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<li data-affiliation-id="full-view-affiliation-16"
|
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id="full-view-affiliation-16"
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><sup class="key">16</sup> Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.</li>
|
||
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<li data-affiliation-id="full-view-affiliation-17"
|
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id="full-view-affiliation-17"
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><sup class="key">17</sup> Division of Neurology, Department of Pediatrics, Tawam Hospital, Al Ain, United Arab Emirates.</li>
|
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<li data-affiliation-id="full-view-affiliation-18"
|
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><sup class="key">18</sup> Division of Clinical Genetics and Metabolic Disorders, Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates.</li>
|
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<li data-affiliation-id="full-view-affiliation-19"
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><sup class="key">19</sup> Spectrum Health Genetics, Grand Rapids, MI, USA.</li>
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<li data-affiliation-id="full-view-affiliation-20"
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><sup class="key">20</sup> Genetics Division, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia.</li>
|
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|
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<li data-affiliation-id="full-view-affiliation-21"
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id="full-view-affiliation-21"
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><sup class="key">21</sup> Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.</li>
|
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<li data-affiliation-id="full-view-affiliation-22"
|
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id="full-view-affiliation-22"
|
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><sup class="key">22</sup> Division of Biological and Environmental Sciences and Engineering (BESE), Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, 23955-6900, Saudi Arabia.</li>
|
||
|
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<li data-affiliation-id="full-view-affiliation-23"
|
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|
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><sup class="key">23</sup> Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa.</li>
|
||
|
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<li data-affiliation-id="full-view-affiliation-24"
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><sup class="key">24</sup> Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa.</li>
|
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|
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<li data-affiliation-id="full-view-affiliation-25"
|
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><sup class="key">25</sup> Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa.</li>
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|
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<li data-affiliation-id="full-view-affiliation-26"
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><sup class="key">26</sup> Spectrum Health Genetics, Grand Rapids, MI, USA. falkuraya@kfshrc.edu.sa.</li>
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|
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<li data-affiliation-id="full-view-affiliation-27"
|
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><sup class="key">27</sup> Division of Biological and Environmental Sciences and Engineering (BESE), King Abdullah University of Science and Technology (KAUST), Thuwal, 23955-6900, Saudi Arabia. falkuraya@kfshrc.edu.sa.</li>
|
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<h1 class="heading-title">
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Expanding the genetic heterogeneity of intellectual disability
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data-ga-label="Hanan E Shamseldin">Hanan E Shamseldin</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia." href="#short-view-affiliation-1" ref="linksrc=author_aff">
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1
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data-ga-label="Fatema AlZahrani">Fatema AlZahrani</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia." href="#short-view-affiliation-1" ref="linksrc=author_aff">
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1
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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="Nisha Patel">Nisha Patel</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia." href="#short-view-affiliation-1" ref="linksrc=author_aff">
|
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1
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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="Niema Ibrahim">Niema Ibrahim</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia." href="#short-view-affiliation-1" ref="linksrc=author_aff">
|
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1
|
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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="Firdous M Abdulwahab">Firdous M Abdulwahab</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia." href="#short-view-affiliation-1" ref="linksrc=author_aff">
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1
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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="Mais Hashem">Mais Hashem</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia." href="#short-view-affiliation-1" ref="linksrc=author_aff">
|
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1
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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="Nadia Alhashmi">Nadia Alhashmi</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, College of Medicine, Sultan Qaboos University, Muscat, Sultanate of Oman." href="#short-view-affiliation-5" ref="linksrc=author_aff">
|
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5
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Al+Murshedi+F&cauthor_id=28940097"
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data-ga-label="Fathiya Al Murshedi">Fathiya Al Murshedi</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, College of Medicine, Sultan Qaboos University, Muscat, Sultanate of Oman." href="#short-view-affiliation-5" ref="linksrc=author_aff">
|
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5
|
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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=Al+Kindy+A&cauthor_id=28940097"
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data-ga-label="Adila Al Kindy">Adila Al Kindy</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, College of Medicine, Sultan Qaboos University, Muscat, Sultanate of Oman." href="#short-view-affiliation-5" ref="linksrc=author_aff">
|
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5
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Alshaer+A&cauthor_id=28940097"
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data-ga-label="Ahmad Alshaer">Ahmad Alshaer</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Pediatric Neurology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia." href="#short-view-affiliation-6" ref="linksrc=author_aff">
|
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6
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Rumayyan+A&cauthor_id=28940097"
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data-ga-label="Ahmed Rumayyan">Ahmed Rumayyan</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia." href="#short-view-affiliation-7" ref="linksrc=author_aff">
|
||
7
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Neurology Division, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia." href="#short-view-affiliation-8" ref="linksrc=author_aff">
|
||
8
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Al+Tala+S&cauthor_id=28940097"
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data-ga-label="Saeed Al Tala">Saeed Al Tala</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics and Genetic Unit, Armed Forces Hospital, Khamis Mushayt, Saudi Arabia." 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=Kurdi+W&cauthor_id=28940097"
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data-ga-label="Wesam Kurdi">Wesam Kurdi</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Obstetrics and Gynecology, King Faisal Specialist Hospital, Riyadh, Saudi Arabia." 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=Alsaman+A&cauthor_id=28940097"
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data-ga-label="Abdulaziz Alsaman">Abdulaziz Alsaman</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatric Subspecialties, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia." href="#short-view-affiliation-11" ref="linksrc=author_aff">
|
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11
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Alasmari+A&cauthor_id=28940097"
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data-ga-label="Ali Alasmari">Ali Alasmari</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatric Subspecialties, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia." 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=Banu+S&cauthor_id=28940097"
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data-ga-label="Selina Banu">Selina Banu</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatric Neurology, ICH and SSF Hospital Mirpur, Dhaka, 1216, Bangladesh." href="#short-view-affiliation-12" ref="linksrc=author_aff">
|
||
12
|
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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=Sultan+T&cauthor_id=28940097"
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data-ga-label="Tipu Sultan">Tipu Sultan</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatric Neurology, Institute of Child Health and The Children's Hospital Lahore, 381-D/2, Lahore, Pakistan." 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=Saleh+MM&cauthor_id=28940097"
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data-ga-label="Mohammed M Saleh">Mohammed M Saleh</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatric Subspecialties, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia." href="#short-view-affiliation-11" ref="linksrc=author_aff">
|
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11
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Alkuraya+H&cauthor_id=28940097"
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data-ga-label="Hisham Alkuraya">Hisham Alkuraya</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Ophthalmology, Specialized Medical Center Hospital, Riyadh, Saudi Arabia." href="#short-view-affiliation-14" ref="linksrc=author_aff">
|
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14
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Salih+MA&cauthor_id=28940097"
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data-ga-label="Mustafa A Salih">Mustafa A Salih</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Pediatric Neurology, Department of Pediatrics, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia." 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=Aldhalaan+H&cauthor_id=28940097"
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data-ga-label="Hesham Aldhalaan">Hesham Aldhalaan</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Pediatric Neurology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia." href="#short-view-affiliation-6" ref="linksrc=author_aff">
|
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6
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Ben-Omran+T&cauthor_id=28940097"
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data-ga-label="Tawfeg Ben-Omran">Tawfeg Ben-Omran</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar." href="#short-view-affiliation-16" ref="linksrc=author_aff">
|
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16
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Al+Musafri+F&cauthor_id=28940097"
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data-ga-label="Fatima Al Musafri">Fatima Al Musafri</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar." 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=Ali+R&cauthor_id=28940097"
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data-ga-label="Rehab Ali">Rehab Ali</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar." href="#short-view-affiliation-16" ref="linksrc=author_aff">
|
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16
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Suleiman+J&cauthor_id=28940097"
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data-ga-label="Jehan Suleiman">Jehan Suleiman</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Neurology, Department of Pediatrics, Tawam Hospital, Al Ain, United Arab Emirates." href="#short-view-affiliation-17" ref="linksrc=author_aff">
|
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17
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Tabarki+B&cauthor_id=28940097"
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data-ga-label="Brahim Tabarki">Brahim Tabarki</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia." href="#short-view-affiliation-4" ref="linksrc=author_aff">
|
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4
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=El-Hattab+AW&cauthor_id=28940097"
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data-ga-label="Ayman W El-Hattab">Ayman W El-Hattab</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Clinical Genetics and Metabolic Disorders, Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates." href="#short-view-affiliation-18" ref="linksrc=author_aff">
|
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18
|
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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=Bupp+C&cauthor_id=28940097"
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data-ga-label="Caleb Bupp">Caleb Bupp</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Spectrum Health Genetics, Grand Rapids, MI, USA." href="#short-view-affiliation-19" ref="linksrc=author_aff">
|
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19
|
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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=Alfadhel+M&cauthor_id=28940097"
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data-ga-label="Majid Alfadhel">Majid Alfadhel</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Genetics Division, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia." href="#short-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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href="/?term=Al+Tassan+N&cauthor_id=28940097"
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data-ga-label="Nada Al Tassan">Nada Al Tassan</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia." href="#short-view-affiliation-1" ref="linksrc=author_aff">
|
||
1
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia." href="#short-view-affiliation-21" ref="linksrc=author_aff">
|
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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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data-ga-label="Dorota Monies">Dorota Monies</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia." href="#short-view-affiliation-1" ref="linksrc=author_aff">
|
||
1
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia." href="#short-view-affiliation-21" ref="linksrc=author_aff">
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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=Arold+ST&cauthor_id=28940097"
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data-ga-label="Stefan T Arold">Stefan T Arold</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Biological and Environmental Sciences and Engineering (BESE), Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, 23955-6900, Saudi Arabia." href="#short-view-affiliation-22" ref="linksrc=author_aff">
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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=Abouelhoda+M&cauthor_id=28940097"
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data-ga-label="Mohamed Abouelhoda">Mohamed Abouelhoda</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia." href="#short-view-affiliation-1" ref="linksrc=author_aff">
|
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1
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia." href="#short-view-affiliation-21" ref="linksrc=author_aff">
|
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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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data-ga-label="Tammaryn Lashley">Tammaryn Lashley</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Queen Square Brain Bank for Neurological Disorders, Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London, UK." href="#short-view-affiliation-3" ref="linksrc=author_aff">
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3
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2
|
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data-ga-label="Eissa Faqeih">Eissa Faqeih</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatric Subspecialties, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia." href="#short-view-affiliation-11" ref="linksrc=author_aff">
|
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11
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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="Fowzan S Alkuraya">Fowzan S Alkuraya</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa." href="#short-view-affiliation-23" ref="linksrc=author_aff">
|
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23
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||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa." href="#short-view-affiliation-24" ref="linksrc=author_aff">
|
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24
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||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa." href="#short-view-affiliation-25" ref="linksrc=author_aff">
|
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25
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||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Spectrum Health Genetics, Grand Rapids, MI, USA. falkuraya@kfshrc.edu.sa." href="#short-view-affiliation-26" ref="linksrc=author_aff">
|
||
26
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Biological and Environmental Sciences and Engineering (BESE), King Abdullah University of Science and Technology (KAUST), Thuwal, 23955-6900, Saudi Arabia. falkuraya@kfshrc.edu.sa." href="#short-view-affiliation-27" ref="linksrc=author_aff">
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27
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</a></sup></span>
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Affiliations
|
||
</h3>
|
||
<ul class="item-list">
|
||
|
||
<li data-affiliation-id="short-view-affiliation-1"
|
||
id="short-view-affiliation-1"
|
||
><sup class="key">1</sup> Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-2"
|
||
id="short-view-affiliation-2"
|
||
><sup class="key">2</sup> Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-3"
|
||
id="short-view-affiliation-3"
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||
><sup class="key">3</sup> Queen Square Brain Bank for Neurological Disorders, Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London, UK.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-4"
|
||
id="short-view-affiliation-4"
|
||
><sup class="key">4</sup> Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-5"
|
||
id="short-view-affiliation-5"
|
||
><sup class="key">5</sup> Department of Genetics, College of Medicine, Sultan Qaboos University, Muscat, Sultanate of Oman.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-6"
|
||
id="short-view-affiliation-6"
|
||
><sup class="key">6</sup> Pediatric Neurology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-7"
|
||
id="short-view-affiliation-7"
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||
><sup class="key">7</sup> King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-8"
|
||
id="short-view-affiliation-8"
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||
><sup class="key">8</sup> Neurology Division, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-9"
|
||
id="short-view-affiliation-9"
|
||
><sup class="key">9</sup> Department of Pediatrics and Genetic Unit, Armed Forces Hospital, Khamis Mushayt, Saudi Arabia.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-10"
|
||
id="short-view-affiliation-10"
|
||
><sup class="key">10</sup> Department of Obstetrics and Gynecology, King Faisal Specialist Hospital, Riyadh, Saudi Arabia.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-11"
|
||
id="short-view-affiliation-11"
|
||
><sup class="key">11</sup> Department of Pediatric Subspecialties, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-12"
|
||
id="short-view-affiliation-12"
|
||
><sup class="key">12</sup> Department of Pediatric Neurology, ICH and SSF Hospital Mirpur, Dhaka, 1216, Bangladesh.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-13"
|
||
id="short-view-affiliation-13"
|
||
><sup class="key">13</sup> Department of Pediatric Neurology, Institute of Child Health and The Children's Hospital Lahore, 381-D/2, Lahore, Pakistan.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-14"
|
||
id="short-view-affiliation-14"
|
||
><sup class="key">14</sup> Department of Ophthalmology, Specialized Medical Center Hospital, Riyadh, Saudi Arabia.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-15"
|
||
id="short-view-affiliation-15"
|
||
><sup class="key">15</sup> Division of Pediatric Neurology, Department of Pediatrics, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-16"
|
||
id="short-view-affiliation-16"
|
||
><sup class="key">16</sup> Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-17"
|
||
id="short-view-affiliation-17"
|
||
><sup class="key">17</sup> Division of Neurology, Department of Pediatrics, Tawam Hospital, Al Ain, United Arab Emirates.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-18"
|
||
id="short-view-affiliation-18"
|
||
><sup class="key">18</sup> Division of Clinical Genetics and Metabolic Disorders, Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-19"
|
||
id="short-view-affiliation-19"
|
||
><sup class="key">19</sup> Spectrum Health Genetics, Grand Rapids, MI, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-20"
|
||
id="short-view-affiliation-20"
|
||
><sup class="key">20</sup> Genetics Division, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-21"
|
||
id="short-view-affiliation-21"
|
||
><sup class="key">21</sup> Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-22"
|
||
id="short-view-affiliation-22"
|
||
><sup class="key">22</sup> Division of Biological and Environmental Sciences and Engineering (BESE), Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, 23955-6900, Saudi Arabia.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-23"
|
||
id="short-view-affiliation-23"
|
||
><sup class="key">23</sup> Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-24"
|
||
id="short-view-affiliation-24"
|
||
><sup class="key">24</sup> Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-25"
|
||
id="short-view-affiliation-25"
|
||
><sup class="key">25</sup> Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-26"
|
||
id="short-view-affiliation-26"
|
||
><sup class="key">26</sup> Spectrum Health Genetics, Grand Rapids, MI, USA. falkuraya@kfshrc.edu.sa.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-27"
|
||
id="short-view-affiliation-27"
|
||
><sup class="key">27</sup> Division of Biological and Environmental Sciences and Engineering (BESE), King Abdullah University of Science and Technology (KAUST), Thuwal, 23955-6900, Saudi Arabia. falkuraya@kfshrc.edu.sa.</li>
|
||
|
||
</ul>
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Correction to: Expanding the genetic heterogeneity of intellectual disability.
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</a>
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<div class="docsum-citation full-citation">
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<span class="docsum-authors full-authors">Anazi S, Maddirevula S, Salpietro V, Asi YT, Alsahli S, Alhashem A, Shamseldin HE, AlZahrani F, Patel N, Ibrahim N, Abdulwahab FM, Hashem M, Alhashmi N, Al Murshedi F, Al Kindy A, Alshaer A, Rumayyan A, Al Tala S, Kurdi W, Alsaman A, Alasmari A, Banu S, Sultan T, Saleh MM, Alkuraya H, Salih MA, Aldhalaan H, Ben-Omran T, Al Musafri F, Ali R, Suleiman J, Tabarki B, El-Hattab AW, Bupp C, Alfadhel M, Al Tassan N, Monies D, Arold ST, Abouelhoda M, Lashley T, Houlden H, Faqeih E, Alkuraya FS.</span>
|
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<span class="docsum-authors short-authors">Anazi S, et al.</span>
|
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<span class="docsum-journal-citation full-journal-citation">Hum Genet. 2018 Jan;137(1):105-109. doi: 10.1007/s00439-017-1859-7.</span>
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<span class="docsum-journal-citation short-journal-citation">Hum Genet. 2018.</span>
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<span class="citation-part">PMID: <span class="docsum-pmid">29288388</span></span>
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<p>
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Intellectual disability (ID) is a common morbid condition with a wide range of etiologies. The list of monogenic forms of ID has increased rapidly in recent years thanks to the implementation of genomic sequencing techniques. In this study, we describe the phenotypic and genetic findings of 68 families (105 patients) all with novel ID-related variants. In addition to established ID genes, including ones for which we describe unusual mutational mechanism, some of these variants represent the first confirmatory disease-gene links following previous reports (TRAK1, GTF3C3, SPTBN4 and NKX6-2), some of which were based on single families. Furthermore, we describe novel variants in 14 genes that we propose as novel candidates (ANKHD1, ASTN2, ATP13A1, FMO4, MADD, MFSD11, NCKAP1, NFASC, PCDHGA10, PPP1R21, SLC12A2, SLK, STK32C and ZFAT). We highlight MADD and PCDHGA10 as particularly compelling candidates in which we identified biallelic likely deleterious variants in two independent ID families each. We also highlight NCKAP1 as another compelling candidate in a large family with autosomal dominant mild intellectual disability that fully segregates with a heterozygous truncating variant. The candidacy of NCKAP1 is further supported by its biological function, and our demonstration of relevant expression in human brain. Our study expands the locus and allelic heterogeneity of ID and demonstrates the power of positional mapping to reveal unusual mutational mechanisms.
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<span class="docsum-authors full-authors">Froukh TJ.</span>
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<span class="docsum-authors short-authors">Froukh TJ.</span>
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A null mutation in TNIK defines a novel locus for intellectual disability.
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ref="linksrc=references_link&ordinalpos=1"
|
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data-ga-category="reference"
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data-ga-action="12216056"
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>
|
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PubMed
|
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</li>
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</ol>
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</li>
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<li>
|
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<ol class="references-and-notes-list">
|
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|
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<li
|
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class="skip-numbering"
|
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value="1">
|
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|
||
Am J Hum Genet. 2010 May 14;86(5):749-64
|
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|
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|
||
|
||
-
|
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<a
|
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class="reference-link"
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PubMed
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</li>
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</ol>
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</li>
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</ol>
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<div class="actions-bar">
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<button
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class="show-all"
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</div>
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|
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</div>
|
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</div>
|
||
|
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|
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|
||
<div id="publication-types" class="publication-types keywords-section">
|
||
<h2 class="title">
|
||
Publication types
|
||
</h2>
|
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<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 Research Support, Non-U.S. Gov't"
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aria-expanded="false"
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data-pinger-ignore>
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Research Support, Non-U.S. Gov't
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</button><div id="keyword-actions-publication-types-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 Research Support, Non-U.S. Gov't"><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=%22Research+Support%2C+Non-U.S.+Gov%27t%22%5Bpt%5D&sort=date&sort_order=desc"
|
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data-href="/?term=%22Research+Support%2C+Non-U.S.+Gov%27t%22%5Bpt%5D&sort=date&sort_order=desc"
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ref="linksrc=search_in_pubmed_keyword_link&keyword="Research Support, Non-U.S. Gov't"[pt]"
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Search in PubMed
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</div>
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|
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<div id="mesh-terms" class="mesh-terms keywords-section">
|
||
<h2 class="title">
|
||
MeSH terms
|
||
</h2>
|
||
|
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<ul class="keywords-list"><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major"
|
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aria-label="Toggle dropdown menu for keyword Exome / genetics*"
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tabindex="0"
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aria-controls="keyword-actions-mesh-terms-major-0"
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aria-expanded="false"
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data-pinger-ignore>
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Exome / genetics*
|
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</button><div id="keyword-actions-mesh-terms-major-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 Exome / 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=%22Exome%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
|
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data-href="/?term=%22Exome%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Exome/genetics"[MAJR]"
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Search in PubMed
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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=""Exome/genetics"[MAJR]"
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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=""Exome/genetics"[MAJR]"
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Add to Search
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
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aria-label="Toggle dropdown menu for keyword Female"
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tabindex="0"
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aria-controls="keyword-actions-mesh-terms-1"
|
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aria-expanded="false"
|
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data-pinger-ignore>
|
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Female
|
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</button><div id="keyword-actions-mesh-terms-1"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
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aria-label="Dropdown menu for keyword Female"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
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href="/?term=%22Female%22%5BMeSH%5D&sort=date&sort_order=desc"
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data-href="/?term=%22Female%22%5BMeSH%5D&sort=date&sort_order=desc"
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Female"[MeSH]"
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Search in PubMed
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href="https://www.ncbi.nlm.nih.gov/mesh?term=Female"
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data-ga-category="search_mesh"
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role="button"
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data-search-term=""Female"[MeSH]"
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data-ga-label=""Female"[MeSH]"
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major"
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aria-label="Toggle dropdown menu for keyword Genetic Heterogeneity*"
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tabindex="0"
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aria-controls="keyword-actions-mesh-terms-major-2"
|
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aria-expanded="false"
|
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data-pinger-ignore>
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Genetic Heterogeneity*
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</button><div id="keyword-actions-mesh-terms-major-2"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
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hidden
|
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aria-label="Dropdown menu for keyword Genetic Heterogeneity*"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
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href="/?term=%22Genetic+Heterogeneity%22%5BMAJR%5D&sort=date&sort_order=desc"
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data-href="/?term=%22Genetic+Heterogeneity%22%5BMAJR%5D&sort=date&sort_order=desc"
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Genetic Heterogeneity"[MAJR]"
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data-ga-label="Genetic Heterogeneity*">
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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=Genetic+Heterogeneity"
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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="Genetic Heterogeneity*">
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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=""Genetic Heterogeneity"[MAJR]"
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Add to Search
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major"
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aria-label="Toggle dropdown menu for keyword Genetic Markers*"
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tabindex="0"
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aria-expanded="false"
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data-pinger-ignore>
|
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Genetic Markers*
|
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</button><div id="keyword-actions-mesh-terms-major-3"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
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aria-label="Dropdown menu for keyword Genetic Markers*"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
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href="/?term=%22Genetic+Markers%22%5BMAJR%5D&sort=date&sort_order=desc"
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data-href="/?term=%22Genetic+Markers%22%5BMAJR%5D&sort=date&sort_order=desc"
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Genetic Markers"[MAJR]"
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data-ga-label="Genetic Markers*">
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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=Genetic+Markers"
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data-ga-category="search_mesh"
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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=""Genetic Markers"[MAJR]"
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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=""Genetic Markers"[MAJR]"
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Add to Search
|
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
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aria-label="Toggle dropdown menu for keyword Genetic Predisposition to Disease"
|
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tabindex="0"
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aria-controls="keyword-actions-mesh-terms-4"
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aria-expanded="false"
|
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data-pinger-ignore>
|
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Genetic Predisposition to Disease
|
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</button><div id="keyword-actions-mesh-terms-4"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
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aria-label="Dropdown menu for keyword Genetic Predisposition to Disease"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
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href="/?term=%22Genetic+Predisposition+to+Disease%22%5BMeSH%5D&sort=date&sort_order=desc"
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data-href="/?term=%22Genetic+Predisposition+to+Disease%22%5BMeSH%5D&sort=date&sort_order=desc"
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Genetic Predisposition to Disease"[MeSH]"
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data-ga-action="mesh_term"
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data-ga-label="Genetic Predisposition to Disease">
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Search in PubMed
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|
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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-ga-category="search"
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Add to Search
|
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
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aria-label="Toggle dropdown menu for keyword High-Throughput Nucleotide Sequencing"
|
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tabindex="0"
|
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aria-controls="keyword-actions-mesh-terms-5"
|
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aria-expanded="false"
|
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data-pinger-ignore>
|
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High-Throughput Nucleotide Sequencing
|
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</button><div id="keyword-actions-mesh-terms-5"
|
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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 High-Throughput Nucleotide Sequencing"><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=%22High-Throughput+Nucleotide+Sequencing%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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data-href="/?term=%22High-Throughput+Nucleotide+Sequencing%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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ref="linksrc=search_in_pubmed_keyword_link&mesh="High-Throughput Nucleotide Sequencing"[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="High-Throughput Nucleotide Sequencing">
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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=High-Throughput+Nucleotide+Sequencing"
|
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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="High-Throughput Nucleotide Sequencing">
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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=""High-Throughput Nucleotide Sequencing"[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=""High-Throughput Nucleotide Sequencing"[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 Humans"
|
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tabindex="0"
|
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aria-controls="keyword-actions-mesh-terms-6"
|
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aria-expanded="false"
|
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data-pinger-ignore>
|
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Humans
|
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</button><div id="keyword-actions-mesh-terms-6"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
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aria-label="Dropdown menu for keyword Humans"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
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href="/?term=%22Humans%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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data-href="/?term=%22Humans%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Humans"[MeSH]"
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data-ga-category="search"
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data-ga-action="mesh_term"
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data-ga-label="Humans">
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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=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
|
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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=""Humans"[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=""Humans"[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 major"
|
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aria-label="Toggle dropdown menu for keyword Intellectual Disability / genetics*"
|
||
tabindex="0"
|
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aria-controls="keyword-actions-mesh-terms-major-7"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
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Intellectual Disability / genetics*
|
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</button><div id="keyword-actions-mesh-terms-major-7"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
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aria-label="Dropdown menu for keyword 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"
|
||
href="/?term=%22Intellectual+Disability%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
|
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data-href="/?term=%22Intellectual+Disability%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
|
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Intellectual Disability/genetics"[MAJR]"
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data-ga-category="search"
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data-ga-action="mesh_term"
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data-ga-label="Intellectual Disability / 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=Intellectual+Disability"
|
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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="Intellectual Disability / 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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data-search-term=""Intellectual Disability/genetics"[MAJR]"
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data-ga-category="search"
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data-ga-action="add_to_search"
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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 Male"
|
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tabindex="0"
|
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aria-controls="keyword-actions-mesh-terms-8"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Male
|
||
</button><div id="keyword-actions-mesh-terms-8"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
||
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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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major"
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aria-label="Toggle dropdown menu for keyword Mutation*"
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aria-expanded="false"
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Pedigree
|
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|
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Protein Conformation
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|
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</div>
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<div id="substances" class="substances keywords-section">
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|
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Substances
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<ul class="keywords-list"><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
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</div>
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Related information
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Protein
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Protein (RefSeq)
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</a></li><li><a title="Link from PubMed to dbVar" href="https://www.ncbi.nlm.nih.gov/dbvar?linkname=pubmed_dbvar&from_uid=28940097"
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dbVar
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