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Pathogenic REST variant causing Jones syndrome and a review of the literature

Year of publication

2022

Authors

Rahikkala, Elisa; Julku, Johanna; Koskinen, Sari; Keski-Filppula, Tommi; Weissgraeber, Stephanie; Bertoli-Avella, Aida M.; Häkli, Sanna; Kraatari-Tiri, Minna

Organizations and authors

University of Oulu

Rahikkala Elisa Orcid -palvelun logo

Kraatari-Tiri Minna

Keski-Filppula Tommi

Häkli Sanna Marjatta

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 human genetics

Publisher

Springer

Issue

4

Pages

469–473

ISSN

1018-4813

​Publication forum

55732

​Publication forum level

1

Open access

Open access in the publisher’s service

Yes

Open access of publication channel

Partially open publication channel

License of the publisher’s version

CC BY

Self-archived

Yes

License of the self-archived publication

CC BY

Other information

Fields of science

Biomedicine

Publication country

Switzerland

Internationality of the publisher

International

Language

English

International co-publication

Yes

Co-publication with a company

No

DOI

10.1038/s41431-022-01258-9

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

Yes