11. Concordance of genetic risk across migraine subgroups: Impact on current and future genetic association studies. (May 2015) Authors: Nyholt, Dale R; Anttila, Verneri; Winsvold, Bendik S; Kurth, Tobias; Stefansson, Hreinn; Kallela, Mikko; Malik, Rainer; Vries, Boukje de; Terwindt, Gisela M; Ikram, M Arfan; Stam, Anine H; Ligthart, Lannie; Freilinger, Tobias; Alexander, Michael; Muller-Myhsok, Bertram; Schreiber, Stefan; Meiting... Journal: Cephalalgia Issue: Volume 35:Number 6(2015) Page Start: 489 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
12. CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures. Issue 6 (4th November 2018) Authors: Sargolzaeiaval, Forough; Zhang, Jiaming; Schleit, Jennifer; Lessel, Davor; Kubisch, Christian; Precioso, Debora R.; Sillence, David; Hisama, Fuki M.; Dorschner, Michael; Martin, George M.; Oshima, Junko Journal: Molecular genetics & genomic medicine Issue: Volume 6:Issue 6(2018) Page Start: 1148 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
13. Dominant KPNA3 Mutations Cause Infantile‐Onset Hereditary Spastic Paraplegia. Issue 5 (14th October 2021) Authors: Schob, Claudia; Hempel, Maja; Safka Brozkova, Dana; Jiang, Huafang; Kim, Soo Yeon; Batzir, Nurit Assia; Orenstein, Naama; Bierhals, Tatjana; Johannsen, Jessika; Uhrova Meszarosova, Anna; Chae, Jong‐Hee; Seeman, Pavel; Woidy, Mathias; Fang, Fang; Kubisch, Christian; Kindler, Stefan; Denecke, Jonas Journal: Annals of neurology Issue: Volume 90:Issue 5(2021) Page Start: 738 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
14. Early-onset familial hemiplegic migraine due to a novel SCN1A mutation. (November 2016) Authors: Fan, Chunxiang; Wolking, Stefan; Lehmann-Horn, Frank; Hedrich, Ulrike BS; Freilinger, Tobias; Lerche, Holger; Borck, Guntram; Kubisch, Christian; Jurkat-Rott, Karin Journal: Cephalalgia Issue: Volume 36:Number 13(2016) Page Start: 1238 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
15. Ethnic‐specific WRN mutations in South Asian Werner syndrome patients: potential founder effect in patients with Indian or Pakistani ancestry. Issue 1 (28th March 2013) Authors: Saha, Bidisha; Lessel, Davor; Nampoothiri, Sheela; Rao, Anuradha S.; Hisama, Fuki M.; Peter, Dincy; Bennett, Chris; Nürnberg, Gudrun; Nürnberg, Peter; Martin, George M.; Kubisch, Christian; Oshima, Junko Journal: Molecular genetics & genomic medicine Issue: Volume 1:Issue 1(2013:May) Page Start: 7 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
16. Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome. Issue 5 (October 2015) Authors: Kuechler, Alma; Altmüller, Janine; Nürnberg, Peter; Kotthoff, Stefan; Kubisch, Christian; Borck, Guntram Journal: Molecular and cellular probes Issue: Volume 29:Issue 5(2015) Page Start: 330 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
17. Exon skipping and severe childhood‐onset obesity caused by a leptin receptor mutation. Issue 10 (15th August 2013) Authors: Kakar, Naseebullah; Ahmad, Jamil; Kubisch, Christian; Borck, Guntram Journal: American journal of medical genetics Issue: Volume 161:Issue 10(2013:Oct.) Page Start: 2672 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
18. Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies. Issue 2 (22nd December 2017) Authors: Kakar, Naseebullah; Horn, Denise; Decker, Eva; Sowada, Nadine; Kubisch, Christian; Ahmad, Jamil; Borck, Guntram; Bergmann, Carsten Journal: American journal of medical genetics Issue: Volume 176:Issue 2(2018) Page Start: 438 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
19. First independent replication study confirms the strong genetic association of ANXA11 with sarcoidosis. Issue 10 (30th August 2010) Authors: Li, Yun; Pabst, Stefan; Kubisch, Christian; Grohé, Christian; Wollnik, Bernd Journal: Thorax Issue: Volume 65:Issue 10(2010) Page Start: 939 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
20. Gene panel testing of 5589 BRCA1/2‐negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer. (9th March 2018) Authors: Hauke, Jan; Horvath, Judit; Groß, Eva; Gehrig, Andrea; Honisch, Ellen; Hackmann, Karl; Schmidt, Gunnar; Arnold, Norbert; Faust, Ulrike; Sutter, Christian; Hentschel, Julia; Wang‐Gohrke, Shan; Smogavec, Mateja; Weber, Bernhard H. F.; Weber‐Lassalle, Nana; Weber‐Lassalle, Konstantin; Borde, Julika;... Journal: Cancer medicine Issue: Volume 7:Number 4(2018:Apr.) Page Start: 1349 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗