1. A Dominant STIM1 Mutation Causes Stormorken Syndrome. Issue 5 (9th April 2014) Authors: Misceo, Doriana; Holmgren, Asbjørn; Louch, William E.; Holme, Pål A.; Mizobuchi, Masahiro; Morales, Raul J.; De Paula, André Maues; Stray‐Pedersen, Asbjørg; Lyle, Robert; Dalhus, Bjørn; Christensen, Geir; Stormorken, Helge; Tjønnfjord, Geir E.; Frengen, Eirik Journal: Human mutation Issue: Volume 35:Issue 5(2014:May) Page Start: 556 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1. Issue 2 (April 2020) Authors: Sumathipala, Dulika S.; Misceo, Doriana; Larsen, Selma Mujezinovic; Barøy, Tuva; Gamage, Thilini H.; Frengen, Eirik; Strømme, Petter Journal: Clinical dysmorphology Issue: Volume 29:Issue 2(2020:Apr.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness. (5th June 2020) Authors: Slavotinek, Anne; Misceo, Doriana; Htun, Stephanie; Mathisen, Linda; Frengen, Eirik; Foreman, Michelle; Hurtig, Jennifer E; Enyenihi, Liz; Sterrett, Maria C; Leung, Sara W; Schneidman-Duhovny, Dina; Estrada-Veras, Juvianee; Duncan, Jacque L; Haaxma, Charlotte A; Kamsteeg, Erik-Jan; Xia, Vivian; B... Journal: Human molecular genetics Issue: Volume 29:Number 13(2020) Page Start: 2218 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. (7th June 2016) Authors: Lemke, Johannes R.; Geider, Kirsten; Helbig, Katherine L.; Heyne, Henrike O.; Schütz, Hannah; Hentschel, Julia; Courage, Carolina; Depienne, Christel; Nava, Caroline; Heron, Delphine; Møller, Rikke S.; Hjalgrim, Helle; Lal, Dennis; Neubauer, Bernd A.; Nürnberg, Peter; Thiele, Holger; Kurlemann, G... Journal: Neurology Issue: Volume 86:Number 23(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. Issue 7 (4th April 2017) Authors: Platzer, Konrad; Yuan, Hongjie; Schütz, Hannah; Winschel, Alexander; Chen, Wenjuan; Hu, Chun; Kusumoto, Hirofumi; Heyne, Henrike O; Helbig, Katherine L; Tang, Sha; Willing, Marcia C; Tinkle, Brad T; Adams, Darius J; Depienne, Christel; Keren, Boris; Mignot, Cyril; Frengen, Eirik; Strømme, Petter;... Journal: Journal of medical genetics Issue: Volume 54:Issue 7(2017) Page Start: 460 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Haploinsufficiency of ANO6, NELL2 and DBX2 in a boy with intellectual disability and growth delay. (6th April 2015) Authors: Carlsen, Ellen Ø.; Frengen, Eirik; Fannemel, Madeleine; Misceo, Doriana Journal: American journal of medical genetics Issue: Volume 167:Number 8(2015:Aug.) Page Start: 1890 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Hyperphagia, Mild Developmental Delay But Apparently No Structural Brain Anomalies in a Boy Without SOX3 Expression. Issue 5 (5th March 2013) Authors: Helle, Johan Robert; Barøy, Tuva; Misceo, Doriana; Braaten, Øivind; Fannemel, Madeleine; Frengen, Eirik Journal: American journal of medical genetics Issue: Volume 161:Issue 5(2013:May) Page Start: 1137 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B. (March 2015) Authors: Pedurupillay, Christeen Ramane J.; Barøy, Tuva; Holmgren, Asbjørn; Blomhoff, Anne; Vigeland, Magnus D.; Sheng, Ying; Frengen, Eirik; Strømme, Petter; Misceo, Doriana Journal: American journal of medical genetics Issue: Volume 167:Number 3(2015:Mar.) Page Start: 657 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome. Issue 12 (1st November 2020) Authors: Epting, Daniel; Senaratne, Lokuliyange D. S.; Ott, Elisabeth; Holmgren, Asbjørn; Sumathipala, Dulika; Larsen, Selma M.; Wallmeier, Julia; Bracht, Diana; Frikstad, Kari‐Anne M.; Crowley, Suzanne; Sikiric, Alma; Barøy, Tuva; Käsmann‐Kellner, Barbara; Decker, Eva; Decker, Christian; Bachmann, Nadine... Journal: Human mutation Issue: Volume 41:Issue 12(2020) Page Start: 2179 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome. Issue 1 (December 2015) Authors: Tjeldhorn, Lena; Amundsen, Silja; Barøy, Tuva; Rand-Hendriksen, Svend; Geiran, Odd; Frengen, Eirik; Paus, Benedicte Journal: BMC medical genetics Issue: Volume 16:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗