Jane Hübertz Frederiksen

Is There a Link between Mitochondrial Reserve Respiratory Capacity and Aging?

Claus Desler, Thomas Lau Hansen, Jane Hübertz Frederiksen et al. · Journal of Aging Research · 2012 · 224 citations · Full text

Biology, Energy Metabolism, Aging +14

A functional assay–based procedure to classify mismatch repair gene variants in Lynch syndrome

Mark Drost, Yvonne Tiersma, Bryony A. Thompson et al. · Genetics in Medicine · 2018 · 52 citations · Full text

Genetic Disorder, Medicine, Genetics +7

New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients

Malene Djursby, Majbritt Busk Madsen, Jane Hübertz Frederiksen et al. · Frontiers in Genetics · 2020 · 28 citations · Full text

Ethylmalonic Encephalopathy ETHE1 R163W/R163Q Mutations Alter Protein Stability and Redox Properties of the Iron Centre

Bárbara J. Henriques, Tânia G. Lucas, João V. Rodrigues et al. · PLoS ONE · 2014 · 21 citations · Full text

Survival, surveillance, and genetics in patients with Peutz–Jeghers syndrome: A nationwide study

Anne Marie Jelsig, Thomas van Overeem Hansen, Lene Bjerring Gede et al. · Clinical Genetics · 2023 · 15 citations · Full text

Cancer Pathology, Genetic Epidemiology, Pathology +16