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International Journal of Neonatal Screening|September 22, 2025
Next-Generation Sequencing in the Diagnostic Workup of Neonatal Dried Blood Spot Screening in Sweden 2015-2023Lene Sörensen, Jorge Asin-Cayuela, Michela Barbaro, et al.
Human Mutation|January 27, 2021
Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7Sandrina P Correia, Marco F Moedas, Karin Naess, et al.
European Journal of Human Genetics : EJHG|March 2, 2012
Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsyHelen A L Tuppen, Karin Naess, Nancy G Kennaway, et al.
Human Mutation|April 23, 2009
Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiencySaskia J G Hoefs, Cindy E J Dieteren, Richard J Rodenburg, et al.
Human Molecular Genetics|April 22, 2017
A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gammaTriinu Siibak, Paula Clemente, Ana Bratic, et al.
Journal of Medical Genetics|June 19, 2015
Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acidChristoph Freyer, Henrik Stranneheim, Karin Naess, et al.
BMC Genomics|December 16, 2014
Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolismHenrik Stranneheim, Martin Engvall, Karin Naess, et al.
Orphanet Journal of Rare Diseases|April 22, 2017
Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse modelSaara Tegelberg, Nikica Tomašić, Jukka Kallijärvi, et al.
Human Molecular Genetics|September 17, 2015
Cyclophilin D, a target for counteracting skeletal muscle dysfunction in mitochondrial myopathyCharlotte Gineste, Andres Hernandez, Niklas Ivarsson, et al.
Human Molecular Genetics|June 3, 2026
MRPS22 variants alter mitochondrial ribosome assembly in patients with leukodystrophy, movement disorder and intellectual impairmentRuth I C Glasgow, Finn Lennartsson, Snjolaug Arnardottir, et al.
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