1. A triangulated evaluation of a youth clinic for patients with kidney disease. Issue 4 (13th June 2018) Authors: Finderup, Jeanette; Kristensen, Annalise Fabricius; Christensen, Rikke; Jespersen, Bente Journal: Journal of renal care Issue: Volume 44:Issue 4(2018) Page Start: 210 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Angelman syndrome in Denmark. Birth incidence, genetic findings, and age at diagnosis. Issue 9 (2nd August 2013) Authors: Mertz, Line Granild Bie; Christensen, Rikke; Vogel, Ida; Hertz, Jens Michael; Nielsen, Karen Brøndum; Grønskov, Karen; Østergaard, John R. Journal: American journal of medical genetics Issue: Volume 161:Issue 9(2013:Sep.) Page Start: 2197 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Angelman syndrome in Denmark. Birth incidence, genetic findings, and age at diagnosis. Issue 9 (2nd August 2013) Authors: Mertz, Line Granild Bie; Christensen, Rikke; Vogel, Ida; Hertz, Jens Michael; Nielsen, Karen Brøndum; Grønskov, Karen; Østergaard, John R. Journal: American journal of medical genetics Issue: Volume 161:Issue 9(2013:Sep.) Page Start: 2197 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Cell‐based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations. Issue 12 (9th August 2020) Authors: Hatt, Lotte; Singh, Ripudaman; Christensen, Rikke; Ravn, Katarina; Christensen, Inga B; Jeppesen, Line Dahl; Nicolaisen, Bolette Hestbek; Kølvraa, Mathias; Schelde, Palle; Andreassen, Lotte; Farlie, Richard; Uldbjerg, Niels; Vogel, Ida Journal: Clinical case reports Issue: Volume 8:Issue 12(2020) Page Start: 2561 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Charcot-Marie-Tooth disease in Denmark: a nationwide register-based study of mortality, prevalence and incidence. Issue 11 (3rd November 2017) Authors: Vaeth, Signe; Vaeth, Michael; Andersen, Henning; Christensen, Rikke; Jensen, Uffe Birk Journal: BMJ open Issue: Volume 7:Issue 11(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Cover Image, Volume 37, Issue 11. (21st November 2017) Authors: Vestergaard, Else Marie; Singh, Ripudaman; Schelde, Palle; Hatt, Lotte; Ravn, Katarina; Christensen, Rikke; Lildballe, Dorte Launholt; Petersen, Olav Bjørn; Uldbjerg, Niels; Vogel, Ida Journal: Prenatal diagnosis Issue: Volume 37:Number 11(2017) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Epilepsy and cataplexy in Angelman syndrome. Genotype-phenotype correlations. (September 2016) Authors: Granild Bie Mertz, Line; Christensen, Rikke; Vogel, Ida; Hertz, Jens Michael; Østergaard, John R. Journal: Research in developmental disabilities Issue: Volume 56(2016:Sep.) Page Start: 177 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Implementation of exome sequencing in fetal diagnostics—Data and experiences from a tertiary center in Denmark. (26th May 2020) Authors: Becher, Naja; Andreasen, Lotte; Sandager, Puk; Lou, Stina; Petersen, Olav Bjørn; Christensen, Rikke; Vogel, Ida Journal: Acta obstetricia et gynecologica Scandinavica Issue: Volume 99:Number 6(2020) Page Start: 783 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You‐Hoover‐Fong syndrome. Issue 5 (28th July 2017) Authors: Moosa, Shahida; Altmüller, Janine; Lyngbye, Troels; Christensen, Rikke; Li, Yun; Nürnberg, Peter; Yigit, Gökhan; Vogel, Ida; Wollnik, Bernd Journal: Molecular genetics & genomic medicine Issue: Volume 5:Issue 5(2017) Page Start: 580 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Novel homozygous CD46 variant with C‐isoform expression affects C3b inactivation in atypical hemolytic uremic syndrome. Issue 10 (31st August 2022) Authors: Schack, Vivien R.; Herlin, Morten K.; Pedersen, Henrik; Jensen, J. Magnus Bernth; Færch, Mia; Bundgaard, Bettina; Jensen, Rasmus K.; Jensen, Uffe B.; Christensen, Rikke; Andersen, Gregers R.; Thiel, Steffen; Höllsberg, Per Journal: European journal of immunology Issue: Volume 52:Issue 10(2022) Page Start: 1610 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗