1. 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) ↗
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. Biallelic variants in GLE1 with survival beyond neonatal period. Issue 6 (20th September 2020) Authors: Yates, T. Michael; Campeau, Philippe M.; Ghoumid, Jamal; Kibaek, Maria; Larsen, Martin J.; Smol, Thomas; Albaba, Sami; Hertz, Jens Michael; Balasubramanian, Meena Journal: Clinical genetics Issue: Volume 98:Issue 6(2020) Page Start: 622 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Distribution of disease courses in familial vs sporadic multiple sclerosis. (3rd December 2018) Authors: Steenhof, Maria; Nielsen, Nete Munk; Stenager, Egon; Kyvik, Kirsten; Möller, Sören; Hertz, Jens Michael Journal: Acta neurologica Scandinavica Issue: Volume 139:Number 3(2019) Page Start: 231 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗
7. Guidelines for Genetic Testing and Management of Alport Syndrome. Issue 1 (January 2022) Authors: Savige, Judy; Lipska-Zietkiewicz, Beata S.; Watson, Elizabeth; Hertz, Jens Michael; Deltas, Constantinos; Mari, Francesca; Hilbert, Pascale; Plevova, Pavlina; Byers, Peter; Cerkauskaite, Agne; Gregory, Martin; Cerkauskiene, Rimante; Ljubanovic, Danica Galesic; Becherucci, Francesca; Errichiello, ... Journal: Clinical journal of the American Society of Nephrology Issue: Volume 17:Issue 1(2022) Page Start: 143 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Hereditary spastic paraplegia type 8: Neuropathological findings. (8th March 2018) Authors: Pehrson, Caroline; Hertz, Jens Michael; Wirenfeldt, Martin; Stenager, Egon; Wermuth, Lene; Winther Kristensen, Bjarne Journal: Brain pathology Issue: Volume 28:Number 2(2018) Page Start: 292 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Low frequency of parental mosaicism in de novo COL4A5 mutations in X‐linked Alport syndrome. Issue 10 (18th August 2020) Authors: Helle, Ole Magnus Bjorgaas; Pedersen, Torkild Høieggen; Ousager, Lilian Bomme; Thomassen, Mads; Hertz, Jens Michael Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 10(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Newborn with severe epidermolysis bullosa: to treat or not to treat?. (26th April 2016) Authors: Boesen, Martin Lehmann; Bygum, Anette; Hertz, Jens Michael; Zachariassen, Gitte Journal: BMJ case reports Issue: Volume 2016 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗