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Article: Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay

TitlePaternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay
Authors
Yeung, KSHo, SPLee, SLKan, SYAChan, YKTang, MHYMAK, CCYLeung, KCSo, PLPfundt, RMarshall, CRScherer, SWChoufani, SWeksberg, RChung, BHY
Keywordsdna methylation
imprinting
paternal upd
uniparental sisomy
upd19
Issue Date2018
PublisherBMJ Group. The Journal's web site is located at http://jmg.bmj.com/
Citation
Journal of Medical Genetics, 2018, v. 55 n. 12, p. 847-852 How to Cite?
DOI: http://dx.doi.org/10.1136/jmedgenet-2018-105328
Persistent Identifierhttp://hdl.handle.net/10722/258685
ISSN
0022-2593
2023 Impact Factor: 3.5
2023 SCImago Journal Rankings: 1.690
ISI Accession Number ID
WOS:000452764200009

 

DC FieldValueLanguage
dc.contributor.authorYeung, KS-
dc.contributor.authorHo, SP-
dc.contributor.authorLee, SL-
dc.contributor.authorKan, SYA-
dc.contributor.authorChan, YK-
dc.contributor.authorTang, MHY-
dc.contributor.authorMAK, CCY-
dc.contributor.authorLeung, KC-
dc.contributor.authorSo, PL-
dc.contributor.authorPfundt, R-
dc.contributor.authorMarshall, CR-
dc.contributor.authorScherer, SW-
dc.contributor.authorChoufani, S-
dc.contributor.authorWeksberg, R-
dc.contributor.authorChung, BHY-
dc.date.accessioned2018-08-22T01:42:25Z-
dc.date.available2018-08-22T01:42:25Z-
dc.date.issued2018-
dc.identifier.citationJournal of Medical Genetics, 2018, v. 55 n. 12, p. 847-852-
dc.identifier.issn0022-2593-
dc.identifier.urihttp://hdl.handle.net/10722/258685-
dc.languageeng-
dc.publisherBMJ Group. The Journal's web site is located at http://jmg.bmj.com/-
dc.relation.ispartofJournal of Medical Genetics-
dc.rightsJournal of Medical Genetics. Copyright © BMJ Group.-
dc.subjectdna methylation-
dc.subjectimprinting-
dc.subjectpaternal upd-
dc.subjectuniparental sisomy-
dc.subjectupd19-
dc.titlePaternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay-
dc.typeArticle-
dc.identifier.emailYeung, KS: ksyyeung@hku.hk-
dc.identifier.emailHo, SP: mspho@hku.hk-
dc.identifier.emailLee, SL: slleem@hku.hk-
dc.identifier.emailKan, SYA: kansya@hkucc.hku.hk-
dc.identifier.emailChan, YK: ykchanc@hku.hk-
dc.identifier.emailTang, MHY: mhytang@hkucc.hku.hk-
dc.identifier.emailLeung, KC: gleungkc@hku.hk-
dc.identifier.emailChung, BHY: bhychung@hku.hk-
dc.identifier.authorityHo, SP=rp02049-
dc.identifier.authorityChan, YK=rp00453-
dc.identifier.authorityTang, MHY=rp01701-
dc.identifier.authorityChung, BHY=rp00473-
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1136/jmedgenet-2018-105328-
dc.identifier.scopuseid_2-s2.0-85050162134-
dc.identifier.hkuros286741-
dc.identifier.volume55-
dc.identifier.issue12-
dc.identifier.spage847-
dc.identifier.epage852-
dc.identifier.isiWOS:000452764200009-
dc.publisher.placeUnited Kingdom-
dc.identifier.issnl0022-2593-

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