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Article: Global developmental delay and intellectual disability associated with a de novo TOP2B mutation

TitleGlobal developmental delay and intellectual disability associated with a de novo TOP2B mutation
Authors
KeywordsE3 ubiquitin ligase
TOP2B
Topoisomerase
UBE3a
Whole-exome sequencing (WES)
Issue Date2017
PublisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/cca
Citation
Clinica Chimica Acta, 2017, v. 469, p. 63-68 How to Cite?
Persistent Identifierhttp://hdl.handle.net/10722/263491
ISSN
2023 Impact Factor: 3.2
2023 SCImago Journal Rankings: 1.016
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorLam, CW-
dc.contributor.authorYeung, WL-
dc.contributor.authorLaw, CY-
dc.date.accessioned2018-10-22T07:39:49Z-
dc.date.available2018-10-22T07:39:49Z-
dc.date.issued2017-
dc.identifier.citationClinica Chimica Acta, 2017, v. 469, p. 63-68-
dc.identifier.issn0009-8981-
dc.identifier.urihttp://hdl.handle.net/10722/263491-
dc.languageeng-
dc.publisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/cca-
dc.relation.ispartofClinica Chimica Acta-
dc.subjectE3 ubiquitin ligase-
dc.subjectTOP2B-
dc.subjectTopoisomerase-
dc.subjectUBE3a-
dc.subjectWhole-exome sequencing (WES)-
dc.titleGlobal developmental delay and intellectual disability associated with a de novo TOP2B mutation-
dc.typeArticle-
dc.identifier.emailLam, CW: ching-wanlam@pathology.hku.hk-
dc.identifier.authorityLam, CW=rp00260-
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1016/j.cca.2017.03.022-
dc.identifier.scopuseid_2-s2.0-85016403402-
dc.identifier.hkuros295011-
dc.identifier.volume469-
dc.identifier.spage63-
dc.identifier.epage68-
dc.identifier.isiWOS:000401879100010-
dc.publisher.placeNetherlands-
dc.identifier.issnl0009-8981-

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