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Authors whose works are in public domain in at least one jurisdiction

List of works by Bjarne Udd

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Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene

scientific article
Titin mutation segregates with hereditary myopathy with early respiratory failure

scientific article
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

scientific article published on 08 June 2016
Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.

scientific article published on 10 May 2015
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

scientific article published on 12 February 2018
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease

article
An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy

scientific article published on 06 March 2019
Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

scientific article published in 2022
Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene

scientific article published on 27 October 2021

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