File Download

There are no files associated with this item.

  Links for fulltext
     (May Require Subscription)
Supplementary

Article: Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion

TitleOkur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion
Authors
KeywordsCSNK2A1
developmental delay
Okur-Chung syndrome
whole exome sequencing
Issue Date2018
PublisherWiley-Blackwell Publishing, Inc. The Journal's web site is located at http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1399-0004
Citation
Clinical Genetics, 2018, v. 93, p. 880-890 How to Cite?
Persistent Identifierhttp://hdl.handle.net/10722/252712
ISSN
2023 Impact Factor: 2.9
2023 SCImago Journal Rankings: 1.236
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorChiu, TA-
dc.contributor.authorPei, LCS-
dc.contributor.authorMAK, CCY-
dc.contributor.authorLeung, KC-
dc.contributor.authorYU, HC-
dc.contributor.authorLee, SL-
dc.contributor.authorVreeburg, M-
dc.contributor.authorPfundt, R-
dc.contributor.authorvan der Burgt, I-
dc.contributor.authorKleefstra, T-
dc.contributor.authorFrederic, TMT-
dc.contributor.authorNambot, S-
dc.contributor.authorFaivre, L-
dc.contributor.authorBruel, AL-
dc.contributor.authorRossi, M-
dc.contributor.authorIsidor, B-
dc.contributor.authorKury, S-
dc.contributor.authorCogne, B-
dc.contributor.authorBesnard, T-
dc.contributor.authorWillems, M-
dc.contributor.authorReijnders, MRF-
dc.contributor.authorChung, BHY-
dc.date.accessioned2018-05-02T03:18:27Z-
dc.date.available2018-05-02T03:18:27Z-
dc.date.issued2018-
dc.identifier.citationClinical Genetics, 2018, v. 93, p. 880-890-
dc.identifier.issn0009-9163-
dc.identifier.urihttp://hdl.handle.net/10722/252712-
dc.languageeng-
dc.publisherWiley-Blackwell Publishing, Inc. The Journal's web site is located at http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1399-0004-
dc.relation.ispartofClinical Genetics-
dc.rightsPreprint This is the pre-peer reviewed version of the following article: [FULL CITE], which has been published in final form at [Link to final article]. Authors are not required to remove preprints posted prior to acceptance of the submitted version. Postprint This is the accepted version of the following article: [full citation], which has been published in final form at [Link to final article]. -
dc.subjectCSNK2A1-
dc.subjectdevelopmental delay-
dc.subjectOkur-Chung syndrome-
dc.subjectwhole exome sequencing-
dc.titleOkur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion-
dc.typeArticle-
dc.identifier.emailChiu, TA: atgchiu@hku.hk-
dc.identifier.emailPei, LCS: slcpei@hku.hk-
dc.identifier.emailLeung, KC: gleungkc@hku.hk-
dc.identifier.emailLee, SL: slleem@hku.hk-
dc.identifier.emailChung, BHY: bhychung@hku.hk-
dc.identifier.authorityChung, BHY=rp00473-
dc.identifier.doi10.1111/cge.13196-
dc.identifier.scopuseid_2-s2.0-85041926988-
dc.identifier.hkuros284916-
dc.identifier.volume93-
dc.identifier.spage880-
dc.identifier.epage890-
dc.identifier.isiWOS:000427471000018-
dc.publisher.placeDenmark-
dc.identifier.issnl0009-9163-

Export via OAI-PMH Interface in XML Formats


OR


Export to Other Non-XML Formats