1. A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome. Issue 2 (14th November 2020) Authors: Delvallée, Clarisse; Nicaise, Samuel; Antin, Manuela; Leuvrey, Anne‐Sophie; Nourisson, Elsa; Leitch, Carmen C.; Kellaris, Georgios; Stoetzel, Corinne; Geoffroy, Véronique; Scheidecker, Sophie; Keren, Boris; Depienne, Christel; Klar, Joakim; Dahl, Niklas; Deleuze, Jean‐François; Génin, Emmanuelle;... Journal: Clinical genetics Issue: Volume 99:Issue 2(2021) Page Start: 318 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome. Issue 2 (1st February 2000) Authors: Tentler, Dmitry; Gustavsson, Peter; Elinder, Göran; Eklöf, Ole; Gordon, Laurie; Mandel, Ariane; Dahl, Niklas Journal: Journal of medical genetics Issue: Volume 37:Issue 2(2000) Page Start: 128 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency. Issue 1 (December 2016) Authors: Bergendal, Birgitta; Norderyd, Johanna; Zhou, Xiaolei; Klar, Joakim; Dahl, Niklas Journal: BMC medical genetics Issue: Volume 17:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele‐Specific Expression. Issue 1 (28th October 2013) Authors: Giorgio, Elisa; Rolyan, Harshvardhan; Kropp, Laura; Chakka, Anish Baswanth; Yatsenko, Svetlana; Gregorio, Eleonora Di; Lacerenza, Daniela; Vaula, Giovanna; Talarico, Flavia; Mandich, Paola; Toro, Camilo; Pierre, Eleonore Eymard; Labauge, Pierre; Capellari, Sabina; Cortelli, Pietro; Vairo, Filippo... Journal: Human mutation Issue: Volume 35:Issue 1(2014:Jan.) Page Start: 149 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele‐Specific Expression. Issue 8 (28th May 2013) Authors: Giorgio, Elisa; Rolyan, Harshvardhan; Kropp, Laura; Chakka, Anish Baswanth; Yatsenko, Svetlana; Gregorio, Eleonora Di; Lacerenza, Daniela; Vaula, Giovanna; Talarico, Flavia; Mandich, Paola; Toro, Camilo; Pierre, Eleonore Eymard; Labauge, Pierre; Capellari, Sabina; Cortelli, Pietro; Vairo, Filippo... Journal: Human mutation Issue: Volume 34:Issue 8(2013:Aug.) Page Start: 1160 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Aniridia with PAX6 mutations and narcolepsy. (14th January 2020) Authors: Berntsson, Shala Ghaderi; Kristoffersson, Anna; Daniilidou, Makrina; Dahl, Niklas; Ekström, Curt; Semnic, Robert; Markström, Agneta; Niemelä, Valter; Partinen, Markku; Hallböök, Finn; Landtblom, Anne‐Marie Journal: Journal of sleep research Issue: Volume 29:Number 6(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Detailed analysis of HTT repeat elements in human blood using targeted amplification‐free long‐read sequencing. Issue 9 (12th July 2018) Authors: Höijer, Ida; Tsai, Yu‐Chih; Clark, Tyson A.; Kotturi, Paul; Dahl, Niklas; Stattin, Eva‐Lena; Bondeson, Marie‐Louise; Feuk, Lars; Gyllensten, Ulf; Ameur, Adam Journal: Human mutation Issue: Volume 39:Issue 9(2018) Page Start: 1262 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Disheveled regulates precoupling of heterotrimeric G proteins to Frizzled 6. Issue 5 (5th February 2014) Authors: Kilander, Michaela B. C.; Petersen, Julian; Andressen, Kjetil Wessel; Ganji, Ranjani Sri; Levy, Finn Olav; Schuster, Jens; Dahl, Niklas; Bryja, Vitezslav; Schulte, Gunnar Journal: FASEB journal Issue: Volume 28:Issue 5(2014) Page Start: 2293 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Fibroblast growth factor 10 haploinsufficiency causes chronic obstructive pulmonary disease. Issue 10 (8th July 2011) Authors: Klar, Joakim; Blomstrand, Peter; Brunmark, Charlott; Badhai, Jitendra; Håkansson, Hanna Falk; Brange, Charlotte Sollie; Bergendal, Birgitta; Dahl, Niklas Journal: Journal of medical genetics Issue: Volume 48:Issue 10(2011) Page Start: 705 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Identification of a novel variant in GPR56/ADGRG1 gene through whole exome sequencing in a consanguineous Pakistani family. (December 2021) Authors: Zulfiqar, Shumaila; Tariq, Muhammad; Ramzan, Shafaq; Khan, Ayaz; Sher, Muhammad; Ali, Zafar; Dahl, Niklas; Abdullah, Uzma; Mahmood Baig, Shahid Journal: Journal of clinical neuroscience Issue: Volume 94(2021) Page Start: 8 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗