Publications by authors named "K Naess"

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Advancing a sensitive method for measuring mitochondrial ATP production in small muscle biopsy samples.
Rolf Wibom, David Alsina, Karin Naess, Martin Engvall, Christoph Freyer

Anal Biochem· February 2026

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Reliability and Validity of Questionnaires to Assess Communication Skills in People With Intellectual Disabilities: A Systematic Review.
Catriona Windsor, Kari-Anne Bottegård Næss, Melanie Kirmess, Stijn Deckers, Natalie Ballentine

J Intellect Disabil Res· December 2025

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Liver Involvement in POLG Disease-a Multicentre Cohort Study of 202 Patients.
Erle Kristensen, Karin Naess, Martin Engvall, Claus Klingenberg, Magnhild Rasmussen

J Inherit Metab Dis· November 2025

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Next-Generation Sequencing in the Diagnostic Workup of Neonatal Dried Blood Spot Screening in Sweden 2015-2023.
Lene Sörensen, Jorge Asin-Cayuela, Michela Barbaro, Helene Bruhn, Martin Engvall, Karin Naess

Int J Neonatal Screen· September 2025

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Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency.
Helene Bruhn, Karin Naess, Sofia Ygberg, Lucía Peña-Pérez, Nicole Lesko

Hum Mutat· April 2025

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