Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome. (3rd March 2015)

Record Type:: Journal Article
Title:: Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome. (3rd March 2015)
Main Title:: Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome
Authors:: Sarkar, Arindam
Emrick, Lisa T.
Smith, Eboni M.
Austin, Elise G.
Yang, Yaping
Hunter, Jill V.
Scaglia, Fernando
Lalani, Seema R.
Abstract:
Is Part Of:: American journal of medical genetics. Volume 167:Number 4(2015:Apr.)
Journal:: American journal of medical genetics
Issue:: Volume 167:Number 4(2015:Apr.)
Issue Display:: Volume 167, Issue 4 (2015)
Year:: 2015
Volume:: 167
Issue:: 4
Issue Sort Value:: 2015-0167-0004-0000
Page Start:: 914
Page End:: 918
Publication Date:: 2015-03-03
Subjects:: Medical genetics -- Periodicals
616.14205
Journal URLs:: http://onlinelibrary.wiley.com/ ↗
DOI:: 10.1002/ajmg.a.36948 ↗
Languages:: English
ISSNs:: 1552-4825
Deposit Type:: Legaldeposit
View Content:: Available online (eLD content is only available in our Reading Rooms) ↗
Physical Locations:: British Library DSC - 0827.920000
British Library DSC - BLDSS-3PM
British Library STI - ELD Digital store
Ingest File:: 9896.xml