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Report of interstitial 22q13.1q13.2 microduplication in two siblings with distinctive dysmorphic features, heart defect and mental retardation

Year of publication

2013

Authors

Rahikkala, Elisa; Forsström, Linda M.; Kokkonen, Hannaleena; Knuutila, Sakari; Mustonen, Aki; Ignatius, Jaakko

Organizations and authors

University of Oulu

Mustonen Aki

Jaakkola Elisa

Ignatius Jaakko

Kokkonen Hannaleena

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

Issue

7

Pages

389-396

​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

Forensic science and other medical sciences; Biomedicine

Publication country

France

Internationality of the publisher

International

Language

English

International co-publication

No

Co-publication with a company

Unknown

DOI

10.1016/j.ejmg.2013.05.004

The publication is included in the Ministry of Education and Culture’s Publication data collection

Yes