1. A novel LMNA nonsense mutation causes two distinct phenotypes of cardiomyopathy with high risk of sudden cardiac death in a large five-generation family. Issue 12 (26th June 2018) Authors: Glöcklhofer, Christina R; Steinfurt, Johannes; Franke, Gerlind; Hoppmann, Anselm; Glantschnig, Theresa; Perez-Feliz, Stefanie; Alter, Svenja; Fischer, Judith; Brunner, Michael; Rainer, Peter P; Köttgen, Anna; Bode, Christoph; Odening, Katja E Journal: Europace Issue: Volume 20:Issue 12(2018) Page Start: 2003 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel mutation in the ABCA12 gene in a Turkish case of Harlequin ichthyosis. Issue 3 (July 2015) Authors: Gürkan, Hakan; Fischer, Judith; Ulusal, Selma; Vatansever, Ülfet; Hartmann, Britta; Tozkır, Hilmi; Schlipf, Nina; Acunaş, Betül Ayşe Journal: Clinical dysmorphology Issue: Volume 24:Issue 3(2015:Jul.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A novel mutation in the ABCA12 gene in a Turkish case of Harlequin ichthyosis. Issue 3 (July 2015) Authors: Gürkan, Hakan; Fischer, Judith; Ulusal, Selma; Vatansever, Ülfet; Hartmann, Britta; Tozkır, Hilmi; Schlipf, Nina; Acunaş, Betül Ayşe Journal: Clinical dysmorphology Issue: Volume 24:Issue 3(2015:Jul.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A novel SPINK5 donor splice site variant in a child with Netherton syndrome. Issue 3 (3rd February 2021) Authors: Mintoff, Dillon; Borg, Isabella; Vornweg, Julia; Mercieca, Liam; Merdzanic, Rijad; Numrich, Johannes; Aquilina, Susan; Pace, Nikolai Paul; Fischer, Judith Journal: Molecular genetics & genomic medicine Issue: Volume 9:Issue 3(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Autosomal recessive congenital ichthyoses (ARCI) in a "bathing‐suit" distribution: progression over time. (12th April 2021) Authors: Arteaga‐Henríquez, María; Frommherz, Leonie; Fischer, Judith; Has, Cristina Journal: International journal of dermatology Issue: Volume 60:Number 8(2021) Page Start: e296 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Biologic therapy targeting IL‐17 ameliorates a case of congenital ichthyosiform cornification disorder. (3rd December 2018) Authors: Haiges, Daniela; Fischer, Judith; Hörer, Steffen; Has, Cristina; Schempp, Christoph M. Journal: Journal der Deutschen Dermatologischen Gesellschaft Issue: Volume 17:Number 1(2019) Page Start: 70 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Biologika‐Therapie mit Anti‐IL‐17A‐Antikörper verbessert kongenitale ichthyosiforme Verhornungsstörung. (7th January 2019) Authors: Haiges, Daniela; Fischer, Judith; Hörer, Steffen; Has, Cristina; Schempp, Christoph M. Journal: Journal der Deutschen Dermatologischen Gesellschaft Issue: Volume 17:Number 1(2019) Page Start: 70 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Die nichtsyndromalen Ichthyosen – aktueller Stand. (February 2014) Authors: Traupe, Heiko; Fischer, Judith; Oji, Vinzenz Journal: Journal der Deutschen Dermatologischen Gesellschaft Issue: Volume 12:Number 2(2014) Page Start: 109 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Ein neues Forum für seltene Hauterkrankungen. (26th June 2019) Authors: Emmert, Steffen; Iben, Sebastian; Fischer, Judith; Komlosi, Katalin; Betz, Regina C.; Frank J, Jorge; Has, Christina Journal: Journal der Deutschen Dermatologischen Gesellschaft Issue: Volume 17:Number 6(2019) Page Start: 672 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Epidemiology of inherited epidermolysis bullosa in Germany. (1st November 2022) Authors: Has, Cristina; Hess, Moritz; Anemüller, Waltraud; Blume‐Peytavi, Ulrike; Emmert, Steffen; Fölster‐Holst, Regina; Frank, Jorge; Giehl, Kathrin; Günther, Claudia; Hammersen, Johanna; Hillmann, Kathrin; Höflein, Bettina; Hoeger, Peter H.; Hotz, Alrun; Mai, Thuy Anh; Oji, Vinzenz; Schneider, Holm; Sü... Journal: Journal of the European Academy of Dermatology and Venereology Issue: Volume 37:Number 2(2023) Page Start: 402 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗