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List of works by Asbjørn Holmgren

A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.

scientific article

A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform

scientific article published on 28 July 2015

Exploring lithium's transcriptional mechanisms of action in bipolar disorder: a multi-step study

scientific article published on 25 October 2019

Genetic variations in the annexin A5 gene and the risk of pregnancy-related venous thrombosis

article

Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms

scientific article published on 7 June 2014

Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B

scientific article published on 01 March 2015

Mapping the expression of an ANK3 isoform associated with bipolar disorder in the human brain

scientific article published on 28 January 2022

STIM1 R304W causes muscle degeneration and impaired platelet activation in mice

scientific article published on 05 October 2018

Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions

scientific article (publication date: 2014)

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