1. Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis. (1st March 2018) Authors: Hotz, A.; Fagerberg, C.; Vahlquist, A.; Bygum, A.; Törmä, H.; Rauschendorf, M.‐A.; Zhang, H.; Heinz, L.; Bourrat, E.; Hausser, I.; Vestergaard, V.; Dragomir, A.; Zimmer, A.D.; Fischer, J. Journal: British journal of dermatology Issue: Volume 178:Number 3(2018) Page Start: e207 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis. (21st January 2018) Authors: Hotz, A.; Fagerberg, C.; Vahlquist, A.; Bygum, A.; Törmä, H.; Rauschendorf, M.‐A.; Zhang, H.; Heinz, L.; Bourrat, E.; Hausser, I.; Vestergaard, V.; Dragomir, A.; Zimmer, A.D.; Fischer, J. Journal: British journal of dermatology Issue: Volume 178:Number 3(2018) Page Start: e207 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) ↗