1. A child with myoclonus-dystonia (DYT11) misdiagnosed as atypical opsoclonus myoclonus syndrome. (November 2015) Authors: Drivenes, Bergitte; Born, Alfred Peter; Ek, Jakob; Dunoe, Morten; Uldall, Peter Vilhelm Journal: European journal of paediatric neurology Issue: Volume 19:Number 6(2015:Nov.) Page Start: 719 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Diagnostic pitfalls in vitamin B6‐dependent epilepsy caused by mutations in the PLPBP gene. Issue 1 (30th September 2019) Authors: Jensen, Kristian Vestergaard; Frid, Maria; Stödberg, Tommy; Barbaro, Michela; Wedell, Anna; Christensen, Mette; Bak, Mads; Ek, Jakob; Madsen, Camilla Gøbel; Darin, Niklas; Grønborg, Sabine Journal: JIMD reports Issue: Volume 50:Issue 1(2019) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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) ↗
4. Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease. Issue 4 (11th September 2021) Authors: Zheng, Wen-Qiang; Pedersen, Signe Vandal; Thompson, Kyle; Bellacchio, Emanuele; French, Courtney E; Munro, Benjamin; Pearson, Toni S; Vogt, Julie; Diodato, Daria; Diemer, Tue; Ernst, Anja; Horvath, Rita; Chitre, Manali; Ek, Jakob; Wibrand, Flemming; Grange, Dorothy K; Raymond, Lucy; Zhou, Xiao-Lo... Journal: Human molecular genetics Issue: Volume 31:Issue 4(2022) Page Start: 523 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two families. Issue 2 (25th April 2021) Authors: McKenzie, Fiona; Mina, Kym; Callewaert, Bert; Beyens, Aude; Dickinson, Jan E.; Jevon, Gareth; Papadimitriou, John; Diness, Birgitte Rode; Steensberg, Jesper Norman; Ek, Jakob; Baynam, Gareth Journal: Clinical genetics Issue: Volume 100:Issue 2(2021) Page Start: 168 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome. (5th November 2015) Authors: Larsen, Jan; Johannesen, Katrine Marie; Ek, Jakob; Tang, Shan; Marini, Carla; Blichfeldt, Susanne; Kibæk, Maria; von Spiczak, Sarah; Weckhuysen, Sarah; Frangu, Mimoza; Neubauer, Bernd Axel; Uldall, Peter; Striano, Pasquale; Zara, Federico; Kleiss, Rebecca; Simpson, Michael; Muhle, Hiltrud; Nikano... Other Names: Craiu DC investigator.; Caglayan HS investigator.; Talvik T investigator.; Weber YG investigator.; Barisic N investigator. Journal: Epilepsia Issue: Volume 56:issue 12(2015:Dec.) Page Start: e203 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗