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Article: Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing

TitleUncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing
Authors
Tang, SMZhuang, XLam, WYNgan, ESWHSU, SJYu, MSo, MTCherny, SSNgo, NDSham, PCTam, PKHGarcia-Barcelo, MM
Issue Date2018
PublisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhg
Citation
European Journal of Human Genetics, 2018, v. 26 n. 6, p. 818-826 How to Cite?
DOI: http://dx.doi.org/10.1038/s41431-018-0129-z
Persistent Identifierhttp://hdl.handle.net/10722/254886
ISSN
1018-4813
2023 Impact Factor: 3.7
2023 SCImago Journal Rankings: 1.538
PubMed Central ID
PMC5974185
ISI Accession Number ID
WOS:000433424200006

 

DC FieldValueLanguage
dc.contributor.authorTang, SM-
dc.contributor.authorZhuang, X-
dc.contributor.authorLam, WY-
dc.contributor.authorNgan, ESW-
dc.contributor.authorHSU, SJ-
dc.contributor.authorYu, M-
dc.contributor.authorSo, MT-
dc.contributor.authorCherny, SS-
dc.contributor.authorNgo, ND-
dc.contributor.authorSham, PC-
dc.contributor.authorTam, PKH-
dc.contributor.authorGarcia-Barcelo, MM-
dc.date.accessioned2018-06-21T01:08:07Z-
dc.date.available2018-06-21T01:08:07Z-
dc.date.issued2018-
dc.identifier.citationEuropean Journal of Human Genetics, 2018, v. 26 n. 6, p. 818-826-
dc.identifier.issn1018-4813-
dc.identifier.urihttp://hdl.handle.net/10722/254886-
dc.languageeng-
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhg-
dc.relation.ispartofEuropean Journal of Human Genetics-
dc.titleUncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing-
dc.typeArticle-
dc.identifier.emailTang, SM: claratang@hku.hk-
dc.identifier.emailLam, WY: wyslam@hku.hk-
dc.identifier.emailNgan, ESW: engan@hku.hk-
dc.identifier.emailSo, MT: jaymtso@hku.hk-
dc.identifier.emailCherny, SS: cherny@hku.hk-
dc.identifier.emailSham, PC: pcsham@hku.hk-
dc.identifier.emailTam, PKH: paultam@hku.hk-
dc.identifier.emailGarcia-Barcelo, MM: mmgarcia@hku.hk-
dc.identifier.authorityTang, SM=rp02105-
dc.identifier.authorityNgan, ESW=rp00422-
dc.identifier.authorityCherny, SS=rp00232-
dc.identifier.authoritySham, PC=rp00459-
dc.identifier.authorityTam, PKH=rp00060-
dc.identifier.authorityGarcia-Barcelo, MM=rp00445-
dc.identifier.doi10.1038/s41431-018-0129-z-
dc.identifier.pmcidPMC5974185-
dc.identifier.scopuseid_2-s2.0-85042529375-
dc.identifier.hkuros285661-
dc.identifier.volume26-
dc.identifier.issue6-
dc.identifier.spage818-
dc.identifier.epage826-
dc.identifier.isiWOS:000433424200006-
dc.publisher.placeUnited Kingdom-
dc.identifier.issnl1018-4813-

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