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A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly

Year of publication

2016

Authors

Jackson, C. B.; Bauer, M. F.; Schaller, A.; Kotzaeridou, U.; Ferrarini, A.; Hahn, D.; Chehade, H.; Barbey, F.; Tran, C.; Gallati, S.; Haeberli, A.; Eggimann, S.; Bonafe, L.; Nuoffer, J-M.

Organizations and authors

Helsinki University Hospital Catchment Area

Jackson C. B.

University of Helsinki

Jackson C. B.

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 pediatrics

Parent publication name

European journal of pediatrics

Volume

175

Issue

4

Pages

517-525

ISSN

1432-1076

​Publication forum

55777

​Publication forum level

1

Open access

Open access in the publisher’s service

No

Self-archived

No

Other information

Fields of science

Gynaecology and paediatrics

Keywords

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

Publication country

Germany

Internationality of the publisher

International

Language

English

International co-publication

Yes

Co-publication with a company

No

DOI

10.1007/s00431-015-2661-y

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

Yes