1. Association of Cole disease with novel heterozygous mutations in the somatomedin‐B domains of the ENPP1 gene: necessary, but not always sufficient. (18th February 2016) Authors: Schlipf, N.A.; Traupe, H.; Gilaberte, Y.; Peitsch, W.K.; Hausser, I.; Oji, V.; Schmieder, A.; Schneider, S.W.; Demmer, P.; Rösler, B.; Fischer, J. Journal: British journal of dermatology Issue: Volume 174:Number 5(2016) Page Start: 1152 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Association of Cole disease with novel heterozygous mutations in the somatomedin‐B domains of the ENPP1 gene: necessary, but not always sufficient. (1st May 2016) Authors: Schlipf, N.A.; Traupe, H.; Gilaberte, Y.; Peitsch, W.K.; Hausser, I.; Oji, V.; Schmieder, A.; Schneider, S.W.; Demmer, P.; Rösler, B.; Fischer, J. Journal: British journal of dermatology Issue: Volume 174:Number 5(2016) Page Start: 1152 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function. (1st August 2017) Authors: Zimmer, A.D.; Kim, G.J.; Hotz, A.; Bourrat, E.; Hausser, I.; Has, C.; Oji, V.; Stieler, K.; Vahlquist, A.; Kunde, V.; Weber, B.; Radner, F.P.W.; Leclerc‐Mercier, S.; Schlipf, N.; Demmer, P.; Küsel, J.; Fischer, J. Journal: British journal of dermatology Issue: Volume 177:Number 2(2017) Page Start: 445 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function. (28th April 2017) Authors: Zimmer, A.D.; Kim, G.J.; Hotz, A.; Bourrat, E.; Hausser, I.; Has, C.; Oji, V.; Stieler, K.; Vahlquist, A.; Kunde, V.; Weber, B.; Radner, F.P.W.; Leclerc‐Mercier, S.; Schlipf, N.; Demmer, P.; Küsel, J.; Fischer, J. Journal: British journal of dermatology Issue: Volume 177:Number 2(2017) Page Start: 445 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗