Delineating the phenotype of RNU4ATAC-related spliceosomopathy

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:American journal of medical genetics. Part A 2023, Vol.191 (4), p.1094-1100
Hauptverfasser: Tabib, Amanda, Richmond, Christopher M, McGaughran, Julie
Format: Report
Sprache:eng
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
container_end_page 1100
container_issue 4
container_start_page 1094
container_title American journal of medical genetics. Part A
container_volume 191
creator Tabib, Amanda
Richmond, Christopher M
McGaughran, Julie
description
doi_str_mv 10.1002/ajmg.a.63110
format Report
fullrecord <record><control><sourceid>proquest</sourceid><recordid>TN_cdi_proquest_miscellaneous_2762818666</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2762818666</sourcerecordid><originalsourceid>FETCH-proquest_miscellaneous_27628186663</originalsourceid><addsrcrecordid>eNqVyrsOgjAUANDGxER8bH5ARxewDyhMJgQ1Tg4GZ9LgBUoKrbQM_r2LP-B0loPQnpKIEsKOsh_aSEaCU0oWKKBJwsI443yF1s71hHCSpCJApzNoNYL0amyx7wDbDkbjPxawafDj_ozzMi_CCbT08MLOalWDcWYwVvrus0XLRmoHu58bdLheyuIW2sm8Z3C-GpSrQWs5gpldxVLBMpoJIfgf9QuIbUCw</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>report</recordtype><pqid>2762818666</pqid></control><display><type>report</type><title>Delineating the phenotype of RNU4ATAC-related spliceosomopathy</title><source>Wiley Online Library Journals</source><creator>Tabib, Amanda ; Richmond, Christopher M ; McGaughran, Julie</creator><creatorcontrib>Tabib, Amanda ; Richmond, Christopher M ; McGaughran, Julie</creatorcontrib><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.63110</identifier><language>eng</language><ispartof>American journal of medical genetics. Part A, 2023, Vol.191 (4), p.1094-1100</ispartof><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>781,785,4491,27930</link.rule.ids></links><search><creatorcontrib>Tabib, Amanda</creatorcontrib><creatorcontrib>Richmond, Christopher M</creatorcontrib><creatorcontrib>McGaughran, Julie</creatorcontrib><title>Delineating the phenotype of RNU4ATAC-related spliceosomopathy</title><title>American journal of medical genetics. Part A</title><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>report</rsrctype><creationdate>2023</creationdate><recordtype>report</recordtype><recordid>eNqVyrsOgjAUANDGxER8bH5ARxewDyhMJgQ1Tg4GZ9LgBUoKrbQM_r2LP-B0loPQnpKIEsKOsh_aSEaCU0oWKKBJwsI443yF1s71hHCSpCJApzNoNYL0amyx7wDbDkbjPxawafDj_ozzMi_CCbT08MLOalWDcWYwVvrus0XLRmoHu58bdLheyuIW2sm8Z3C-GpSrQWs5gpldxVLBMpoJIfgf9QuIbUCw</recordid><startdate>20230401</startdate><enddate>20230401</enddate><creator>Tabib, Amanda</creator><creator>Richmond, Christopher M</creator><creator>McGaughran, Julie</creator><scope>7X8</scope></search><sort><creationdate>20230401</creationdate><title>Delineating the phenotype of RNU4ATAC-related spliceosomopathy</title><author>Tabib, Amanda ; Richmond, Christopher M ; McGaughran, Julie</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-proquest_miscellaneous_27628186663</frbrgroupid><rsrctype>reports</rsrctype><prefilter>reports</prefilter><language>eng</language><creationdate>2023</creationdate><toplevel>online_resources</toplevel><creatorcontrib>Tabib, Amanda</creatorcontrib><creatorcontrib>Richmond, Christopher M</creatorcontrib><creatorcontrib>McGaughran, Julie</creatorcontrib><collection>MEDLINE - Academic</collection></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Tabib, Amanda</au><au>Richmond, Christopher M</au><au>McGaughran, Julie</au><format>book</format><genre>unknown</genre><ristype>RPRT</ristype><atitle>Delineating the phenotype of RNU4ATAC-related spliceosomopathy</atitle><jtitle>American journal of medical genetics. Part A</jtitle><date>2023-04-01</date><risdate>2023</risdate><volume>191</volume><issue>4</issue><spage>1094</spage><epage>1100</epage><pages>1094-1100</pages><eissn>1552-4833</eissn><doi>10.1002/ajmg.a.63110</doi></addata></record>
fulltext fulltext
identifier EISSN: 1552-4833
ispartof American journal of medical genetics. Part A, 2023, Vol.191 (4), p.1094-1100
issn 1552-4833
language eng
recordid cdi_proquest_miscellaneous_2762818666
source Wiley Online Library Journals
title Delineating the phenotype of RNU4ATAC-related spliceosomopathy
url https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-13T16%3A30%3A56IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest&rft_val_fmt=info:ofi/fmt:kev:mtx:book&rft.genre=unknown&rft.atitle=Delineating%20the%20phenotype%20of%20RNU4ATAC-related%20spliceosomopathy&rft.jtitle=American%20journal%20of%20medical%20genetics.%20Part%20A&rft.au=Tabib,%20Amanda&rft.date=2023-04-01&rft.volume=191&rft.issue=4&rft.spage=1094&rft.epage=1100&rft.pages=1094-1100&rft.eissn=1552-4833&rft_id=info:doi/10.1002/ajmg.a.63110&rft_dat=%3Cproquest%3E2762818666%3C/proquest%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2762818666&rft_id=info:pmid/&rfr_iscdi=true