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Article: Sacral agenesis: a pilot whole exome sequencing and copy number study

TitleSacral agenesis: a pilot whole exome sequencing and copy number study
Authors
Porsch, RMMerello, EDe Marco, PCheng, GRodriguez, LSo, MTSham, PCTam, PKHCapra, VCherny, SSGarcia-Barcelo, MMCampbell, DD
KeywordsCaudal regression
Copy-number variation
Sacral agenesis
Whole exome sequencing
Issue Date2016
PublisherBioMed Central Ltd. The Journal's web site is located at http://www.biomedcentral.com/bmcmedgenet/
Citation
BMC Medical Genetics, 2016, v. 17 n. 1, p. 98:1-10 How to Cite?
DOI: http://dx.doi.org/10.1186/s12881-016-0359-2
Persistent Identifierhttp://hdl.handle.net/10722/238724
ISSN
1471-2350
2021 Impact Factor: 2.023
2020 SCImago Journal Rankings: 0.669
PubMed Central ID
PMC5178083
ISI Accession Number ID
WOS:000390388300001

 

DC FieldValueLanguage
dc.contributor.authorPorsch, RM-
dc.contributor.authorMerello, E-
dc.contributor.authorDe Marco, P-
dc.contributor.authorCheng, G-
dc.contributor.authorRodriguez, L-
dc.contributor.authorSo, MT-
dc.contributor.authorSham, PC-
dc.contributor.authorTam, PKH-
dc.contributor.authorCapra, V-
dc.contributor.authorCherny, SS-
dc.contributor.authorGarcia-Barcelo, MM-
dc.contributor.authorCampbell, DD-
dc.date.accessioned2017-02-20T01:25:13Z-
dc.date.available2017-02-20T01:25:13Z-
dc.date.issued2016-
dc.identifier.citationBMC Medical Genetics, 2016, v. 17 n. 1, p. 98:1-10-
dc.identifier.issn1471-2350-
dc.identifier.urihttp://hdl.handle.net/10722/238724-
dc.languageeng-
dc.publisherBioMed Central Ltd. The Journal's web site is located at http://www.biomedcentral.com/bmcmedgenet/-
dc.relation.ispartofBMC Medical Genetics-
dc.rightsBMC Medical Genetics. Copyright © BioMed Central Ltd.-
dc.rightsThis work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.-
dc.subjectCaudal regression-
dc.subjectCopy-number variation-
dc.subjectSacral agenesis-
dc.subjectWhole exome sequencing-
dc.titleSacral agenesis: a pilot whole exome sequencing and copy number study-
dc.typeArticle-
dc.identifier.emailCheng, G: gchenghn@hku.hk-
dc.identifier.emailSo, MT: jaymtso@hku.hk-
dc.identifier.emailSham, PC: pcsham@hku.hk-
dc.identifier.emailTam, PKH: paultam@hku.hk-
dc.identifier.emailCherny, SS: cherny@hku.hk-
dc.identifier.emailGarcia-Barcelo, MM: mmgarcia@hku.hk-
dc.identifier.emailCampbell, DD: ddc123@hku.hk-
dc.identifier.authoritySham, PC=rp00459-
dc.identifier.authorityTam, PKH=rp00060-
dc.identifier.authorityCherny, SS=rp00232-
dc.identifier.authorityGarcia-Barcelo, MM=rp00445-
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.1186/s12881-016-0359-2-
dc.identifier.pmcidPMC5178083-
dc.identifier.scopuseid_2-s2.0-85006877762-
dc.identifier.hkuros271365-
dc.identifier.volume17-
dc.identifier.issue1-
dc.identifier.spage98:1-
dc.identifier.epage10-
dc.identifier.isiWOS:000390388300001-
dc.publisher.placeUnited Kingdom-
dc.identifier.issnl1471-2350-

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