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- Publisher Website: 10.1016/j.cca.2017.03.022
- Scopus: eid_2-s2.0-85016403402
- WOS: WOS:000401879100010
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Article: Global developmental delay and intellectual disability associated with a de novo TOP2B mutation
Title | Global developmental delay and intellectual disability associated with a de novo TOP2B mutation |
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Authors | |
Keywords | E3 ubiquitin ligase TOP2B Topoisomerase UBE3a Whole-exome sequencing (WES) |
Issue Date | 2017 |
Publisher | Elsevier 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 Identifier | http://hdl.handle.net/10722/263491 |
ISSN | 2023 Impact Factor: 3.2 2023 SCImago Journal Rankings: 1.016 |
ISI Accession Number ID |
DC Field | Value | Language |
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dc.contributor.author | Lam, CW | - |
dc.contributor.author | Yeung, WL | - |
dc.contributor.author | Law, CY | - |
dc.date.accessioned | 2018-10-22T07:39:49Z | - |
dc.date.available | 2018-10-22T07:39:49Z | - |
dc.date.issued | 2017 | - |
dc.identifier.citation | Clinica Chimica Acta, 2017, v. 469, p. 63-68 | - |
dc.identifier.issn | 0009-8981 | - |
dc.identifier.uri | http://hdl.handle.net/10722/263491 | - |
dc.language | eng | - |
dc.publisher | Elsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/cca | - |
dc.relation.ispartof | Clinica Chimica Acta | - |
dc.subject | E3 ubiquitin ligase | - |
dc.subject | TOP2B | - |
dc.subject | Topoisomerase | - |
dc.subject | UBE3a | - |
dc.subject | Whole-exome sequencing (WES) | - |
dc.title | Global developmental delay and intellectual disability associated with a de novo TOP2B mutation | - |
dc.type | Article | - |
dc.identifier.email | Lam, CW: ching-wanlam@pathology.hku.hk | - |
dc.identifier.authority | Lam, CW=rp00260 | - |
dc.description.nature | link_to_subscribed_fulltext | - |
dc.identifier.doi | 10.1016/j.cca.2017.03.022 | - |
dc.identifier.scopus | eid_2-s2.0-85016403402 | - |
dc.identifier.hkuros | 295011 | - |
dc.identifier.volume | 469 | - |
dc.identifier.spage | 63 | - |
dc.identifier.epage | 68 | - |
dc.identifier.isi | WOS:000401879100010 | - |
dc.publisher.place | Netherlands | - |
dc.identifier.issnl | 0009-8981 | - |