1. A study of familial Char syndrome involving the TFAP2B gene with a focus on facial shape characteristics. Issue 3 (July 2018) Authors: Nyboe, Daniel; Kreiborg, Sven; Darvann, Tron; Dunø, Morten; Nissen, Kamilla R.; Hove, Hanne B. Journal: Clinical dysmorphology Issue: Volume 27:Issue 3(2018:Jul.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Cell-free fetal DNA for genetic evaluation in Copenhagen Pregnancy Loss Study (COPL): a prospective cohort study. Issue 10378 (4th March 2023) Authors: Schlaikjær Hartwig, Tanja; Ambye, Louise; Gruhn, Jennifer R; Petersen, Jesper Friis; Wrønding, Tine; Amato, Letizia; Chi-Ho Chan, Andrew; Ji, Boyang; Bro-Jørgensen, Maiken Hemme; Werge, Lene; Petersen, Mette Marie Babiel Schmidt; Brinkmann, Clara; Petersen, Julie Birch; Dunø, Morten; Bache, Iben;... Journal: Lancet Issue: Volume 401:Issue 10378(2023) Page Start: 762 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Differences in genetic defects and morphology of eye‐ and limb muscles in mitochondrial myopathy. (13th October 2014) Authors: Levison, Lotte; Dunø, Morten; Risom, Lotte; Toft, Peter B.; Vissing, John Journal: Acta ophthalmologica Issue: Volume 93:Number 4(2015) Page Start: e306 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. DNA methylation signature classification of rare disorders using publicly available methylation data. Issue 6 (6th February 2023) Authors: Hildonen, Mathis; Ferilli, Marco; Hjortshøj, Tina Duelund; Dunø, Morten; Risom, Lotte; Bak, Mads; Ek, Jakob; Møller, Rikke S.; Ciolfi, Andrea; Tartaglia, Marco; Tümer, Zeynep Journal: Clinical genetics Issue: Volume 103:Issue 6(2023) Page Start: 688 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Facial Asymmetry in Nonsyndromic and Muenke Syndrome–Associated Unicoronal Synostosis: A 3-Dimensional Study Based on Facial Surfaces Extracted From CT Scans. (June 2021) Authors: Öwall, Louise; Darvann, Tron A.; Hove, Hanne B.; Heliövaara, Arja; Dunø, Morten; Kreiborg, Sven; Hermann, Nuno V. Journal: Cleft palate-craniofacial journal Issue: Volume 58:Number 6(2021) Page Start: 687 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Genotype and phenotype classification of 29 patients affected by Krabbe disease. Issue 1 (14th March 2019) Authors: Madsen, Anna M. H.; Wibrand, Flemming; Lund, Allan M.; Ek, Jakob; Dunø, Morten; Østergaard, Elsebet Journal: JIMD reports Issue: Volume 46:Issue 1(2019) Page Start: 35 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Increased risk of sudden death in untreated primary carnitine deficiency. Issue 2 (15th December 2019) Authors: Rasmussen, Jan; Dunø, Morten; Lund, Allan M.; Steuerwald, Ulrike; Hansen, Steen‐Holger; Joensen, Høgni D.; Køber, Lars; Nielsen, Olav W. Journal: Journal of inherited metabolic disease Issue: Volume 43:Issue 2(2020) Page Start: 290 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Mitochondrial Point Mutation m.3243A>G Associates With Lower Bone Mineral Density, Thinner Cortices, and Reduced Bone Strength: A Case‐Control Study. (18th July 2017) Authors: Langdahl, Jakob Høgild; Frederiksen, Anja Lisbeth; Hansen, Stinus Jørn; Andersen, Per Heden; Yderstræde, Knud Bonnet; Dunø, Morten; Vissing, John; Frost, Morten Journal: Journal of bone and mineral research Issue: Volume 32:Number 10(2017:Oct.) Page Start: 2041 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Monozygotic twins presenting with isolated sagittal and bicoronal synostosis, respectively. Issue 2 (April 2016) Authors: Hove, Hanne D.; Dunø, Morten; Larsen, Per; Kreiborg, Sven Journal: Clinical dysmorphology Issue: Volume 25:Issue 2(2016:Apr.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements. Issue 3 (7th December 2018) Authors: Schönewolf‐Greulich, Bitten; Bisgaard, Anne‐Marie; Dunø, Morten; Jespersgaard, Cathrine; Rokkjær, Mette; Hansen, Lars K.; Tsoutsou, Eirini; Sofokleous, Christalena; Topcu, Meral; Kaur, Simran; Van Bergen, Nicole J.; Brøndum‐Nielsen, Karen; Larsen, Martin J.; Sørensen, Kristina P.; Christodoulou, ... Journal: Clinical genetics Issue: Volume 95:Issue 3(2019) Page Start: 403 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗