1. Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome. (1st June 2021) Authors: Vornweg, J.; Gläser, S.; Ahmad‐Anwar, M.; Zimmer, A.D.; Kuhn, M.; Hörer, S.; Korenke, G.C.; Grothaus, J.; Ott, H.; Fischer, J. Journal: British journal of dermatology Issue: Volume 184:Number 6(2021) Page Start: 1190 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome. (3rd March 2021) Authors: Vornweg, J.; Gläser, S.; Ahmad‐Anwar, M.; Zimmer, A.D.; Kuhn, M.; Hörer, S.; Korenke, G.C.; Grothaus, J.; Ott, H.; Fischer, J. Journal: British journal of dermatology Issue: Volume 184:Number 6(2021) Page Start: 1190 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Mosaicism due to postzygotic mutations in women with focal dermal hypoplasia. (1st March 2019) Authors: Heinz, L.; Bourrat, E.; Vabres, P.; Thevenon, J.; Hotz, A.; Hörer, S.; Küsel, J.; Zimmer, A.D.; Alter, S.; Happle, R.; Fischer, J. Journal: British journal of dermatology Issue: Volume 180:Number 3(2019) Page Start: 657 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Mosaicism due to postzygotic mutations in women with focal dermal hypoplasia. (30th September 2018) Authors: Heinz, L.; Bourrat, E.; Vabres, P.; Thevenon, J.; Hotz, A.; Hörer, S.; Küsel, J.; Zimmer, A.D.; Alter, S.; Happle, R.; Fischer, J. Journal: British journal of dermatology Issue: Volume 180:Number 3(2019) Page Start: 657 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Mosaicism in women with focal dermal hypoplasia. (1st March 2019) Authors: Heinz, L.; Bourrat, E.; Vabres, P.; Thevenon, J.; Hotz, A.; Hörer, S.; Küsel, J.; Zimmer, A.D.; Alter, S.; Happle, R.; Fischer, J. Journal: British journal of dermatology Issue: Volume 180:Number 3(2019) Page Start: e81 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 局灶性真皮发育不全女性中的嵌合现象. (1st March 2019) Authors: Heinz, L.; Bourrat, E.; Vabres, P.; Thevenon, J.; Hotz, A.; Hörer, S.; Küsel, J.; Zimmer, A.D.; Alter, S.; Happle, R.; Fischer, J. Journal: British journal of dermatology Issue: Volume 180:Number 3(2019) Page Start: e97 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗