Comparative genomic hybridisation shows a partial de novo deletion 16p11.2 in a neonate with multiple congenital malformations. Issue 5 (1st May 2002)

Record Type:: Journal Article
Title:: Comparative genomic hybridisation shows a partial de novo deletion 16p11.2 in a neonate with multiple congenital malformations. Issue 5 (1st May 2002)
Main Title:: Comparative genomic hybridisation shows a partial de novo deletion 16p11.2 in a neonate with multiple congenital malformations
Authors:: Hernando, C
Plaja, A
Rigola, M A
Pérez, M M
Vendrell, T
Egocue, J
Fuster, C
Abstract:
Is Part Of:: Journal of medical genetics. Volume 39:Issue 5(2002)
Journal:: Journal of medical genetics
Issue:: Volume 39:Issue 5(2002)
Issue Display:: Volume 39, Issue 5 (2002)
Year:: 2002
Volume:: 39
Issue:: 5
Issue Sort Value:: 2002-0039-0005-0000
Page Start:: e24
Page End:: e24
Publication Date:: 2002-05-01
Subjects:: partial monosomy -- comparative genomic hybridisation (CGH) -- congenital malformations -- chromosomal abnormalities
CGH, comparative genomic hybridisation -- APKD, adult polycystic kidney disease
Medical genetics -- Periodicals
616.042
Journal URLs:: http://jmg.bmjjournals.com/ ↗
http://www.bmj.com/archive ↗
DOI:: 10.1136/jmg.39.5.e24 ↗
Languages:: English
ISSNs:: 1468-6244
Deposit Type:: Legaldeposit
View Content:: Available online (eLD content is only available in our Reading Rooms) ↗
Physical Locations:: British Library DSC - BLDSS-3PM
British Library HMNTS - ELD Digital store
Ingest File:: 17865.xml