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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

University of Oulu

Jaakkola Elisa

Moilanen Jukka Orcid -palvelun logo

Pajunen Leila

Myllyharju Johanna Orcid -palvelun logo

Karppinen Peppi Orcid -palvelun logo

Publication type

Publication format

Article

Parent publication type

Journal

Article type

Original article

Audience

Scientific

Peer-reviewed

Peer-Reviewed

MINEDU's publication type classification code

A1 Journal article (refereed), original research

Publication channel information

Journal

European journal of medical genetics

Issue

10

Pages

543-551

ISSN

1769-7212

​Publication forum

55753

​Publication forum level

1

Open access

Open access in the publisher’s service

No

Self-archived

No

Other information

Fields of science

Biochemistry, cell and molecular biology; Genetics, developmental biology, physiology

Keywords

[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

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