Search

Author/Creator Kubisch, Christian

1. A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories. Issue 6 (4th April 2014)

Authors:
Akimoto, Chizuru; Volk, Alexander E; van Blitterswijk, Marka; Van den Broeck, Marleen; Leblond, Claire S; Lumbroso, Serge; Camu, William; Neitzel, Birgit; Onodera, Osamu; van Rheenen, Wouter; Pinto, Susana; Weber, Markus; Smith, Bradley; Proven, Melanie; Talbot, Kevin; Keagle, Pamela; Chesi, Ales...
Journal:
Journal of medical genetics
Issue:
Volume 51:Issue 6(2014)
Page Start:
419
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. A post GWAS association study of SNPs associated with cleft lip with or without cleft palate in submucous cleft palate. (March 2015)

Authors:
Reiter, Rudolf; Brosch, Sibylle; Goebel, Ingrid; Ludwig, Kerstin U.; Pickhard, Anja; Högel, Josef; Schlömer, Guido; Mangold, Elisabeth; Kubisch, Christian; Borck, Guntram
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 3(2015:Mar.)
Page Start:
670
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. A rare heterozygous TREM2 coding variant identified in familial clustering of dementia affects an intrinsically disordered protein region and function of TREM2. Issue 1 (15th September 2019)

Authors:
Karsak, Meliha; Glebov, Konstantin; Scheffold, Marina; Bajaj, Thomas; Kawalia, Amit; Karaca, Ilker; Rading, Sebastian; Kornhuber, Johannes; Peters, Oliver; Diez‐Fairen, Monica; Frölich, Lutz; Hüll, Michael; Wiltfang, Jens; Scherer, Martin; Riedel‐Heller, Steffi; Schneider, Anja; Heneka, Michael T...
Journal:
Human mutation
Issue:
Volume 41:Issue 1(2020)
Page Start:
169
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. A recurrent synonymous KAT6B mutation causes Say‐Barber‐Biesecker/Young‐Simpson syndrome by inducing aberrant splicing. (3rd September 2015)

Authors:
Yilmaz, Rüstem; Beleza‐Meireles, Ana; Price, Susan; Oliveira, Renata; Kubisch, Christian; Clayton‐Smith, Jill; Szakszon, Katalin; Borck, Guntram
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 12(2015:Dec.)
Page Start:
3006
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients. Issue 7 (1st July 2016)

Authors:
Sadovnick, A Dessa; Traboulsee, Anthony L; Bernales, Cecily Q; Ross, Jay P; Forwell, Amanda L; Yee, Irene M; Guillot-Noel, Lena; Fontaine, Bertrand; Cournu-Rebeix, Isabelle; Alcina, Antonio; Fedetz, Maria; Izquierdo, Guillermo; Matesanz, Fuencisla; Hilven, Kelly; Dubois, Bénédicte; Goris, An; Ast...
Journal:
G3
Issue:
Volume 6:Issue 7(2016)
Page Start:
2073
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. Atypical Aicardi‐Goutieres syndrome: Is the WRN locus a modifier?. Issue 10 (2nd July 2014)

Authors:
Lessel, Davor; Saha, Bidisha; Hisama, Fuki; Kaymakamzade, Bahar; Nurlu, Gulay; Gursoy‐Özdemir, Yasemin; Thiele, Holger; Nürnberg, Peter; Martin, George M.; Kubisch, Christian; Oshima, Junko
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 10(2014.)
Page Start:
2510
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

8. Atypical Aicardi‐Goutieres syndrome: Is the WRN locus a modifier?. Issue 10 (2nd July 2014)

Authors:
Lessel, Davor; Saha, Bidisha; Hisama, Fuki; Kaymakamzade, Bahar; Nurlu, Gulay; Gursoy‐Özdemir, Yasemin; Thiele, Holger; Nürnberg, Peter; Martin, George M.; Kubisch, Christian; Oshima, Junko
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 10(2014.)
Page Start:
2510
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

9. Closing the case of APOE in multiple sclerosis: no association with disease risk in over 29 000 subjects. Issue 9 (11th September 2012)

Authors:
Lill, Christina M; Liu, Tian; Schjeide, Brit-Maren M; Roehr, Johannes T; Akkad, Denis A; Damotte, Vincent; Alcina, Antonio; Ortiz, Miguel A; Arroyo, Rafa; Lopez de Lapuente, Aitzkoa; Blaschke, Paul; Winkelmann, Alexander; Gerdes, Lisa-Ann; Luessi, Felix; Fernadez, Oscar; Izquierdo, Guillermo; Ant...
Other Names:
contributor.
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 9(2012)
Page Start:
558
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

10. Comprehensive analysis of the mutation spectrum in 301 German ALS families. Issue 8 (12th April 2018)

Authors:
Müller, Kathrin; Brenner, David; Weydt, Patrick; Meyer, Thomas; Grehl, Torsten; Petri, Susanne; Grosskreutz, Julian; Schuster, Joachim; Volk, Alexander E; Borck, Guntram; Kubisch, Christian; Klopstock, Thomas; Zeller, Daniel; Jablonka, Sibylle; Sendtner, Michael; Klebe, Stephan; Knehr, Antje; Gün...
Other Names:
author non-byline.; Weyen Ute author non-byline.; Hermann Andreas author non-byline.; Regensburger Martin author non-byline.; Winkler Jürgen author non-byline.; Linker Ralf author non-byline.; Winner Beate author non-byline.; Hagenacker Tim author non-byline.; Koch Jan Christoph author non-bylin...
Journal:
Journal of neurology, neurosurgery and psychiatry
Issue:
Volume 89:Issue 8(2018)
Page Start:
817
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗