Øystein L Holla
3PUBLICATIONS
11CO-AUTHORS
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Publications (3)
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|Jun 11, 2024
A monoallelic UXS1 variant associated with short-limbed short stature.Cecilie F Rustad, Paul Hoff Backe, Chunsheng Jin
|Mar 23, 2022
A polymorphic AT-repeat causes frequent allele dropout for an <i>MME</i> mutational hotspot exon.Helle Høyer, Hilde T Hilmarsen, Raute Sunder-Plassmann
|Dec 08, 2021
Biallelic <i>ANGPT2</i> loss-of-function causes severe early-onset non-immune hydrops fetalis.Marie F Smeland, Pascal Brouillard, Trine Prescott
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Frequent Collaborators
1 joint publications
Marie F Smeland
1 joint publications
Pascal Brouillard
1 joint publications
Laurence M Boon
1 joint publications
Mona Nystad
1 joint publications
Miikka Vikkula
1 joint publications
Helle Høyer
1 joint publications
Christian Beetz
1 joint publications
Cecilie F Rustad
1 joint publications
Paul Hoff Backe
1 joint publications
Chunsheng Jin
