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Identifying haplotypes in recessive inherited retinal dystrophies usingwhole-genome linked-readsequencing

Year of publication

2021

Authors

Repo, Pauliina; Järvinen, Reetta-Stiina; Sankila, Eeva-Marja; Paavo, Maarjaliis; Ellonen, Pekka; Kivelä, Tero T.; Turunen, Joni A.

Organizations and authors

University of Helsinki

Sankila Eeva-Marja

Turunen Joni A.

Paavo Maarjaliis

Repo Pauliina

Ellonen Pekka

Kivelä Tero T.

Helsinki University Hospital Catchment Area

Sankila Eeva-Marja

Turunen Joni A.

Paavo Maarjaliis

Repo Pauliina

Ellonen Pekka

Kivelä Tero T.

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

Clinical genetics

Parent publication name

Clinical Genetics

Volume

99

Issue

1

Pages

193-198

ISSN

0009-9163

​Publication forum

53581

​Publication forum level

1

Open access

Open access in the publisher’s service

No

Self-archived

No

Other information

Fields of science

Otorhinolaryngology, ophthalmology

Keywords

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

Publication country

Denmark

Internationality of the publisher

International

Language

English

International co-publication

No

Co-publication with a company

No

DOI

10.1111/cge.13847

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

Yes