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Conference Paper: Homozygous missense mutation in ABR causes cerebellar hypoplasia with early lethality: a new condition identified by exome sequencing?

TitleHomozygous missense mutation in ABR causes cerebellar hypoplasia with early lethality: a new condition identified by exome sequencing?
Authors
Issue Date2015
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html
Citation
The 35th Annual David W. Smith Workshop on Malformations and Morphogenesis, Madison, WI, USA, 26-29 July 2014. In American Journal of Medical Genetics Part A, 2015, v. 167 n. 8, p. 1698 How to Cite?
Persistent Identifierhttp://hdl.handle.net/10722/201337
ISSN
2015 Impact Factor: 2.082
2015 SCImago Journal Rankings: 1.115

 

DC FieldValueLanguage
dc.contributor.authorYing, D-
dc.contributor.authorShek, NWM-
dc.contributor.authorChu, YWY-
dc.contributor.authorYeung, KS-
dc.contributor.authorLeung, KC-
dc.contributor.authorTang, MHY-
dc.contributor.authorKan, ASY-
dc.contributor.authorChan, YK-
dc.contributor.authorChung, BHY-
dc.date.accessioned2014-08-21T07:24:31Z-
dc.date.available2014-08-21T07:24:31Z-
dc.date.issued2015-
dc.identifier.citationThe 35th Annual David W. Smith Workshop on Malformations and Morphogenesis, Madison, WI, USA, 26-29 July 2014. In American Journal of Medical Genetics Part A, 2015, v. 167 n. 8, p. 1698-
dc.identifier.issn1552-4825-
dc.identifier.urihttp://hdl.handle.net/10722/201337-
dc.languageeng-
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html-
dc.relation.ispartofAmerican Journal of Medical Genetics Part A-
dc.rightsAmerican Journal of Medical Genetics Part A. Copyright © John Wiley & Sons, Inc.-
dc.titleHomozygous missense mutation in ABR causes cerebellar hypoplasia with early lethality: a new condition identified by exome sequencing?-
dc.typeConference_Paper-
dc.identifier.emailYing, D: jonson@hku.hk-
dc.identifier.emailShek, NWM: sheknoel@hku.hk-
dc.identifier.emailChu, YWY: chuwyy@hku.hk-
dc.identifier.emailLeung, KC: gleungkc@hku.hk-
dc.identifier.emailTang, MHY: mhytang@hkucc.hku.hk-
dc.identifier.emailKan, ASY: kansya@hku.hk-
dc.identifier.emailChan, YK: ykchanc@hku.hk-
dc.identifier.emailChung, BHY: bhychung@hku.hk-
dc.identifier.authorityTang, MHY=rp01701-
dc.identifier.authorityChan, YK=rp00453-
dc.identifier.authorityChung, BHY=rp00473-
dc.identifier.doi10.1002/ajmg.a.37107-
dc.identifier.hkuros234627-
dc.identifier.volume167-
dc.identifier.issue8-
dc.identifier.spage1698-
dc.identifier.epage1698-
dc.publisher.placeUnited States-

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