1. Biallelic ANGPT2 loss-of-function causes severe early-onset non-immune hydrops fetalis. Issue 1 (7th December 2021) Authors: Smeland, Marie F.; Brouillard, Pascal; Prescott, Trine; Boon, Laurence M; Hvingel, Bodil; Nordbakken, Cecilie V; Nystad, Mona; Holla, Øystein L.; Vikkula, Miikka Journal: Journal of medical genetics Issue: Volume 60:Issue 1(2023) Page Start: 57 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Corrigendum to "Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing". (8th October 2015) Authors: Høyer, Helle; Braathen, Geir J.; Busk, Øyvind L.; Holla, Øystein L.; Svendsen, Marit; Hilmarsen, Hilde T.; Strand, Linda; Skjelbred, Camilla F.; Russell, Michael B. Journal: BioMed research international Issue: Volume 2015(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Genetic and Phenotypic Characterization of Community Hospital Patients With QT Prolongation. Issue 16 (21st August 2018) Authors: Gibbs, Charlotte; Thalamus, Jacob; Tveten, Kristian; Busk, Øyvind L.; Hysing, Jan; Haugaa, Kristina H.; Holla, Øystein L. Journal: Journal of the American Heart Association Issue: Volume 7:Issue 16(2018) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing. (15th June 2014) Authors: Høyer, Helle; Braathen, Geir J.; Busk, Øyvind L.; Holla, Øystein L.; Svendsen, Marit; Hilmarsen, Hilde T.; Strand, Linda; Skjelbred, Camilla F.; Russell, Michael B. Other Names: Durmaz Asude Alpman Academic Editor. Journal: BioMed research international Issue: Volume 2014(2014) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin. Issue 1 (13th September 2021) Authors: von der Lippe, Charlotte; Tveten, Kristian; Prescott, Trine E.; Holla, Øystein L.; Busk, Øyvind L.; Burke, Katherine B.; Sansbury, Francis H.; Baptista, Júlia; Fry, Andrew E.; Lim, Derek; Jolles, Stephen; Evans, Jennifer; Osio, Deborah; Macmillan, Carol; Bruno, Irene; Faletra, Flavio; Climent, Sa... Journal: American journal of medical genetics Issue: Volume 188:Issue 1(2022) Page Start: 272 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗