Clinical characterization, genetic mapping and whole- genome sequence analysis of a novel autosomal recessive intellectual disability syndrome
Year of publication
2014
Authors
Kaasinen, Eevi; Rahikkala, Elisa; Koivunen, Peppi; Miettinen, Sirpa; Wamelink, Mirjam M. C.; Aavikko, Mervi; Palin, Kimmo; Myllyharju, Johanna; Moilanen, Jukka S.; Pajunen, Leila; Karhu, Auli; Aaltonen, Lauri A.
Organizations and authors
Helsinki University Hospital Catchment Area
Karhu Auli
Kaasinen Eevi
Palin Kimmo
Aaltonen Lauri A.
Aavikko Mervi
Oulu University Hospital Catchment Area
Rahikkala Elisa
Moilanen Jukka
Pajunen Leila
Miettinen Sirpa
Publication type
Publication format
Article
Parent publication type
Journal
Article type
Original article
Audience
ScientificPeer-reviewed
Peer-ReviewedMINEDU's publication type classification code
A1 Journal article (refereed), original researchPublication channel information
Parent publication name
Volume
57
Issue
10
Pages
543-551
ISSN
Publication forum
Publication forum level
1
Open access
Open access in the publisher’s service
No
Self-archived
Unknown
Other information
Fields of science
Others; Biomedicine
Publication country
France
Internationality of the publisher
International
Language
English
International co-publication
Yes
Co-publication with a company
Unknown
DOI
10.1016/j.ejmg.2014.07.002
The publication is included in the Ministry of Education and Culture’s Publication data collection
Yes