Report of the Phenotype of a Patient with Roberts Syndrome and a Rare ESCO2 Variant
Gespeichert in:
Veröffentlicht in: | Journal of pediatric genetics 2020, Vol.9 (1), p.58-62 |
---|---|
Hauptverfasser: | , , , , , , , , , |
Format: | Report |
Sprache: | eng |
Online-Zugang: | Volltext |
Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
container_end_page | 62 |
---|---|
container_issue | 1 |
container_start_page | 58 |
container_title | Journal of pediatric genetics |
container_volume | 9 |
creator | da Costa Almeida, Carla Bastos Welter, Amanda Thum Abech, Gabriel Dotta Brandão, Gabriela Rangel Flores, José Antônio Monteiro Schüle, Birgitt Francke, Uta Fiegenbaum, Marilu Zen, Paulo Ricardo Gazzola Rosa, Rafael Fabiano Machado |
description | |
doi_str_mv | 10.1055/s-0039-1696636 |
format | Report |
fullrecord | <record><control><sourceid>proquest</sourceid><recordid>TN_cdi_proquest_miscellaneous_2344280071</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2344280071</sourcerecordid><originalsourceid>FETCH-proquest_miscellaneous_23442800713</originalsourceid><addsrcrecordid>eNqVjrEKwjAURTMoKNrV-Y0u1SRto51FcVNacS1Rn7RSk5o8kf69VfwB73LgcIbL2ETwmeBJMvch51EaCpUqFakeG0oRqzBOUjVggfc33m0hIpkuhyzPsLGOwF6BSoR9icZS2-BHaNhrqtAQvCoqIbMndOQhb83F2TuCNpeuybRDWOernYSjdpU2NGb9q649Bj-O2HSzPqy2YePs44meinvlz1jX2qB9-kJGcSyX309_pG9du0c9</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>report</recordtype><pqid>2344280071</pqid></control><display><type>report</type><title>Report of the Phenotype of a Patient with Roberts Syndrome and a Rare ESCO2 Variant</title><source>PubMed Central</source><source>EZB Electronic Journals Library</source><creator>da Costa Almeida, Carla Bastos ; Welter, Amanda Thum ; Abech, Gabriel Dotta ; Brandão, Gabriela Rangel ; Flores, José Antônio Monteiro ; Schüle, Birgitt ; Francke, Uta ; Fiegenbaum, Marilu ; Zen, Paulo Ricardo Gazzola ; Rosa, Rafael Fabiano Machado</creator><creatorcontrib>da Costa Almeida, Carla Bastos ; Welter, Amanda Thum ; Abech, Gabriel Dotta ; Brandão, Gabriela Rangel ; Flores, José Antônio Monteiro ; Schüle, Birgitt ; Francke, Uta ; Fiegenbaum, Marilu ; Zen, Paulo Ricardo Gazzola ; Rosa, Rafael Fabiano Machado</creatorcontrib><identifier>ISSN: 2146-4596</identifier><identifier>DOI: 10.1055/s-0039-1696636</identifier><language>eng</language><ispartof>Journal of pediatric genetics, 2020, Vol.9 (1), p.58-62</ispartof><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>777,781,4476,27906</link.rule.ids></links><search><creatorcontrib>da Costa Almeida, Carla Bastos</creatorcontrib><creatorcontrib>Welter, Amanda Thum</creatorcontrib><creatorcontrib>Abech, Gabriel Dotta</creatorcontrib><creatorcontrib>Brandão, Gabriela Rangel</creatorcontrib><creatorcontrib>Flores, José Antônio Monteiro</creatorcontrib><creatorcontrib>Schüle, Birgitt</creatorcontrib><creatorcontrib>Francke, Uta</creatorcontrib><creatorcontrib>Fiegenbaum, Marilu</creatorcontrib><creatorcontrib>Zen, Paulo Ricardo Gazzola</creatorcontrib><creatorcontrib>Rosa, Rafael Fabiano Machado</creatorcontrib><title>Report of the Phenotype of a Patient with Roberts Syndrome and a Rare ESCO2 Variant</title><title>Journal of pediatric genetics</title><issn>2146-4596</issn><fulltext>true</fulltext><rsrctype>report</rsrctype><creationdate>2020</creationdate><recordtype>report</recordtype><recordid>eNqVjrEKwjAURTMoKNrV-Y0u1SRto51FcVNacS1Rn7RSk5o8kf69VfwB73LgcIbL2ETwmeBJMvch51EaCpUqFakeG0oRqzBOUjVggfc33m0hIpkuhyzPsLGOwF6BSoR9icZS2-BHaNhrqtAQvCoqIbMndOQhb83F2TuCNpeuybRDWOernYSjdpU2NGb9q649Bj-O2HSzPqy2YePs44meinvlz1jX2qB9-kJGcSyX309_pG9du0c9</recordid><startdate>20200301</startdate><enddate>20200301</enddate><creator>da Costa Almeida, Carla Bastos</creator><creator>Welter, Amanda Thum</creator><creator>Abech, Gabriel Dotta</creator><creator>Brandão, Gabriela Rangel</creator><creator>Flores, José Antônio Monteiro</creator><creator>Schüle, Birgitt</creator><creator>Francke, Uta</creator><creator>Fiegenbaum, Marilu</creator><creator>Zen, Paulo Ricardo Gazzola</creator><creator>Rosa, Rafael Fabiano Machado</creator><scope>7X8</scope></search><sort><creationdate>20200301</creationdate><title>Report of the Phenotype of a Patient with Roberts Syndrome and a Rare ESCO2 Variant</title><author>da Costa Almeida, Carla Bastos ; Welter, Amanda Thum ; Abech, Gabriel Dotta ; Brandão, Gabriela Rangel ; Flores, José Antônio Monteiro ; Schüle, Birgitt ; Francke, Uta ; Fiegenbaum, Marilu ; Zen, Paulo Ricardo Gazzola ; Rosa, Rafael Fabiano Machado</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-proquest_miscellaneous_23442800713</frbrgroupid><rsrctype>reports</rsrctype><prefilter>reports</prefilter><language>eng</language><creationdate>2020</creationdate><toplevel>online_resources</toplevel><creatorcontrib>da Costa Almeida, Carla Bastos</creatorcontrib><creatorcontrib>Welter, Amanda Thum</creatorcontrib><creatorcontrib>Abech, Gabriel Dotta</creatorcontrib><creatorcontrib>Brandão, Gabriela Rangel</creatorcontrib><creatorcontrib>Flores, José Antônio Monteiro</creatorcontrib><creatorcontrib>Schüle, Birgitt</creatorcontrib><creatorcontrib>Francke, Uta</creatorcontrib><creatorcontrib>Fiegenbaum, Marilu</creatorcontrib><creatorcontrib>Zen, Paulo Ricardo Gazzola</creatorcontrib><creatorcontrib>Rosa, Rafael Fabiano Machado</creatorcontrib><collection>MEDLINE - Academic</collection></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>da Costa Almeida, Carla Bastos</au><au>Welter, Amanda Thum</au><au>Abech, Gabriel Dotta</au><au>Brandão, Gabriela Rangel</au><au>Flores, José Antônio Monteiro</au><au>Schüle, Birgitt</au><au>Francke, Uta</au><au>Fiegenbaum, Marilu</au><au>Zen, Paulo Ricardo Gazzola</au><au>Rosa, Rafael Fabiano Machado</au><format>book</format><genre>unknown</genre><ristype>RPRT</ristype><atitle>Report of the Phenotype of a Patient with Roberts Syndrome and a Rare ESCO2 Variant</atitle><jtitle>Journal of pediatric genetics</jtitle><date>2020-03-01</date><risdate>2020</risdate><volume>9</volume><issue>1</issue><spage>58</spage><epage>62</epage><pages>58-62</pages><issn>2146-4596</issn><doi>10.1055/s-0039-1696636</doi></addata></record> |
fulltext | fulltext |
identifier | ISSN: 2146-4596 |
ispartof | Journal of pediatric genetics, 2020, Vol.9 (1), p.58-62 |
issn | 2146-4596 |
language | eng |
recordid | cdi_proquest_miscellaneous_2344280071 |
source | PubMed Central; EZB Electronic Journals Library |
title | Report of the Phenotype of a Patient with Roberts Syndrome and a Rare ESCO2 Variant |
url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-17T15%3A18%3A16IST&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=Report%20of%20the%20Phenotype%20of%20a%20Patient%20with%20Roberts%20Syndrome%20and%20a%20Rare%20ESCO2%20Variant&rft.jtitle=Journal%20of%20pediatric%20genetics&rft.au=da%20Costa%20Almeida,%20Carla%20Bastos&rft.date=2020-03-01&rft.volume=9&rft.issue=1&rft.spage=58&rft.epage=62&rft.pages=58-62&rft.issn=2146-4596&rft_id=info:doi/10.1055/s-0039-1696636&rft_dat=%3Cproquest%3E2344280071%3C/proquest%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2344280071&rft_id=info:pmid/&rfr_iscdi=true |