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Genotype-phenotype correlations in recessive titinopathies

Year of publication

2020

Authors

Savarese, Marco; Diaz-Manera, Jordi; Ehrstedt, Christoffer; Rojas-Garcia, Ricardo; Saenz, Amets; Muelas, Nuria; Lonardo, Fortunato; Fodstad, Heidi; Qureshi, Talha; Johari, Mridul; Valipakka, Salla; Vihola, Anna; Luque, Helena; Petiot, Philippe; de Munain, Adolfo Lopez; Pane, Marika; Mercuri, Eugenio; Torella, Annalaura; Nigro, Vincenzo; Astrea, Guja; Santorelli, Filippo Maria; Bruno, Claudio; Oates, Emily C.; Kuntzer, Thierry; Illa, Isabel; Vilchez, Juan J.; Julien, Cedric; Ferreiro, Ana; Malandrini, Ale; Barresi, Rita; Fiorillo, Chiara; Tasca, Giorgio; Jokela, Manu; Vihola, Anna; Luo, Sushan
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Organizations and authors

Turku University Hospital Catchment Area

Udd Bjarne

Tampere University Hospital Catchment Area

Jokela Manu

University of Helsinki

Vihola Anna

Udd Bjarne

Luque Helena

Savarese Marco

Johari Mridul

Hackman Peter

Välipakka Salla

Qureshi Talha

Tampere University

Vihola Anna

Jokela Manu

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

Genetics in medicine

Parent publication name

Genetics In medicine

Volume

22

Issue

12

Pages

2029-2040

ISSN

1098-3600

​Publication forum

56522

​Publication forum level

2

Open access

Open access in the publisher’s service

No

Open access of publication channel

Partially open publication channel

Self-archived

No

Other information

Fields of science

Genetics, developmental biology, physiology; Biomedicine; Neurology and psychiatry

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]

Internationality of the publisher

International

Language

English

International co-publication

Yes

Co-publication with a company

Yes

DOI

10.1038/s41436-020-0914-2

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

Yes