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. A description of a fetal syndrome associated with HNF1B mutation and a wide intrafamilial disease variability. Issue 12 (29th October 2013) Authors: Rasmussen, Maria; Ramsing, Mette; Petersen, Olav Bjørn; Vogel, Ida; Sunde, Lone Journal: American journal of medical genetics Issue: Volume 161:Issue 12(2013:Dec.) Page Start: 3191 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A description of a fetal syndrome associated with HNF1B mutation and a wide intrafamilial disease variability. Issue 12 (29th October 2013) Authors: Rasmussen, Maria; Ramsing, Mette; Petersen, Olav Bjørn; Vogel, Ida; Sunde, Lone Journal: American journal of medical genetics Issue: Volume 161:Issue 12(2013:Dec.) Page Start: 3191 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans. Issue 1 (26th July 2017) Authors: Brophy, Patrick D; Rasmussen, Maria; Parida, Mrutyunjaya; Bonde, Greg; Darbro, Benjamin W; Hong, Xiaojing; Clarke, Jason C; Peterson, Kevin A; Denegre, James; Schneider, Michael; Sussman, Caroline R; Sunde, Lone; Lildballe, Dorte L; Hertz, Jens Michael; Cornell, Robert A; Murray, Stephen A; Manak... Journal: Genetics Issue: Volume 207:Issue 1(2017) Page Start: 215 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Infants with prenatally diagnosed kidney anomalies have an increased risk of urinary tract infections. (4th September 2017) Authors: Rasmussen, Maria; Sunde, Lone; Andersen, René F.; Petersen, Olav B.; Olsen, Morten S. Other Names: Tabor Ann investigator.; Shalmi Anne‐Cathrine investigator.; Jensen Hanne investigator.; Vase Laura investigator.; Sperling Lene investigator.; Vang Marianne investigator.; Hessellund Annette investigator.; Brendstrup Lene investigator.; Bendsen Eske investigator.; Sommer Steffen investigator.; K... Journal: Acta pædiatrica Issue: Volume 106:Number 11(2017) Page Start: 1875 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Kidney anomalies diagnosed by prenatal ultrasound screening and associated non‐urinary malformations: a nationwide prevalence study. (28th July 2016) Authors: Rasmussen, Maria; Olsen, Morten Smærup; Sunde, Lone; Sperling, Lene Søndergård; Petersen, Olav Bjørn Journal: Prenatal diagnosis Issue: Volume 36:Number 9(2016) Page Start: 847 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. MO036: Detection of copy number variations by single-nucleotide-polymorphism array in patients with end-stage renal disease of unknown etiology. (3rd May 2022) Authors: Granhøj, Jeff; Venborg Pedersen, Katja; Birn, Henrik; Lildballe, Dorte L; Jørgensen, Mads; Aagaard Graakjær, Jesper; Rasmussen, Maria Journal: Nephrology dialysis transplantation Issue: Volume 37(2022)Supplement 3 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Outcome of continued infliximab therapy in Crohn's disease patients with response but without remission after one year of infliximab – a retrospective cohort study. (3rd August 2018) Authors: Buhl, Sine; Kristina Borghede, Märta; Brynskov, Jørn; Steenholdt, Casper; Rasmussen, Maria; Andrew Ainsworth, Mark Journal: Scandinavian journal of gastroenterology Issue: Volume 53:Number 8(2018) Page Start: 930 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Outcomes After Primary Infliximab Treatment Failure in Inflammatory Bowel Disease. Issue 7 (25th April 2017) Authors: Buhl, Sine; Steenholdt, Casper; Rasmussen, Maria; Borghede, Märta K.; Brynskov, Jørn; Thomsen, Ole Ø.; Ainsworth, Mark A. Journal: Inflammatory bowel diseases Issue: Volume 23:Issue 7(2017) Page Start: 1210 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Outcomes After Primary Infliximab Treatment Failure in Inflammatory Bowel Disease. Issue 7 (July 2017) Authors: Buhl, Sine; Steenholdt, Casper; Rasmussen, Maria; Borghede, Märta K.; Brynskov, Jørn; Thomsen, Ole Ø.; Ainsworth, Mark A. Journal: Inflammatory bowel diseases Issue: Volume 23:Issue 7(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗