1. 17q12 deletion and duplication syndrome in Denmark—A clinical cohort of 38 patients and review of the literature. Issue 11 (13th July 2016) Authors: Rasmussen, Maria; Vestergaard, Else Marie; Graakjaer, Jesper; Petkov, Yanko; Bache, Iben; Fagerberg, Christina; Kibæk, Maria; Svaneby, Dea; Petersen, Olav Bjørn; Brasch‐Andersen, Charlotte; Sunde, Lone Journal: American journal of medical genetics Issue: Volume 170:Issue 11(2016) Page Start: 2934 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder. Issue 1 (16th October 2013) Authors: Thevenon, Julien; Callier, Patrick; Poquet, Hélène; Bache, Iben; Menten, Bjorn; Malan, Valérie; Cavaliere, Maria Luigia; Girod, Jean-Paul; Thauvin-Robinet, Christel; El Chehadeh, Salima; Pinoit, Jean-Michel; Huet, Frederic; Verges, Bruno; Petit, Jean-Michel; Mosca-Boidron, Anne-Laure; Marle, Nath... Journal: Journal of medical genetics Issue: Volume 51:Issue 1(2014) Page Start: 21 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Analysis of t(9;17)(q33.2;q25.3) chromosomal breakpoint regions and genetic association reveals novel candidate genes for bipolar disorder. (23rd July 2014) Authors: Rajkumar, Anto P; Christensen, Jane H; Mattheisen, Manuel; Jacobsen, Iben; Bache, Iben; Pallesen, Jonatan; Grove, Jakob; Qvist, Per; McQuillin, Andrew; Gurling, Hugh M; Tümer, Zeynep; Mors, Ole; Børglum, Anders D Journal: Bipolar disorders Issue: Volume 17:Number 2(2015) Page Start: 205 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Analysis of t(9;17)(q33.2;q25.3) chromosomal breakpoint regions and genetic association reveals novel candidate genes for bipolar disorder. (23rd July 2014) Authors: Rajkumar, Anto P; Christensen, Jane H; Mattheisen, Manuel; Jacobsen, Iben; Bache, Iben; Pallesen, Jonatan; Grove, Jakob; Qvist, Per; McQuillin, Andrew; Gurling, Hugh M; Tümer, Zeynep; Mors, Ole; Børglum, Anders D Journal: Bipolar disorders Issue: Volume 17:Number 2(2015) Page Start: 205 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. Multigenic truncation of the semaphorin–plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome. Issue 8 (14th May 2019) Authors: Nazaryan‐Petersen, Lusine; Oliveira, Inês R.; Mehrjouy, Mana M.; Mendez, Juan M. M.; Bak, Mads; Bugge, Merete; Kalscheuer, Vera M.; Bache, Iben; Hancks, Dustin C.; Tommerup, Niels Journal: Human mutation Issue: Volume 40:Issue 8(2019) Page Start: 1057 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Simulation based virtual learning environment in medical genetics counseling: an example of bridging the gap between theory and practice in medical education. Issue 1 (December 2016) Authors: Makransky, Guido; Bonde, Mads; Wulff, Julie; Wandall, Jakob; Hood, Michelle; Creed, Peter; Bache, Iben; Silahtaroglu, Asli; Nørremølle, Anne Journal: BMC medical education Issue: Volume 16:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Trisomy 8 mosaicism in the placenta: A Danish cohort study of 37 cases and a literature review. (18th December 2020) Authors: Thomsen, Simon Horsholt; Lund, Ida Charlotte Bay; Fagerberg, Christina; Bache, Iben; Becher, Naja; Vogel, Ida Journal: Prenatal diagnosis Issue: Volume 41:Number 4(2021) Page Start: 409 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Von Hippel‐Lindau development in children and adolescents. Issue 9 (26th June 2017) Authors: Launbjerg, Karoline; Bache, Iben; Galanakis, Michael; Bisgaard, Marie Luise; Binderup, Marie Louise M. Journal: American journal of medical genetics Issue: Volume 173:Issue 9(2017) Page Start: 2381 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗