1. Keratotic follicular plugs with calcifications in Conradi–Hünermann–Happle syndrome: histological, biochemical and genetic testing correlation. (1st November 2015) Authors: Leclerc‐Mercier, S.; Dufernez, F.; Fraitag, S.; Coulombe, J.; Dompmartin, A.; Barreau, M.; Bozon, D.; Lamazière, A.; Bonnefont, J.‐P.; Khalifa, E.; Bodemer, C.; Hadj‐Rabia, S. Journal: British journal of dermatology Issue: Volume 173:Number 5(2015:Nov.) Page Start: 1316 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Keratotic follicular plugs with calcifications in Conradi–Hünermann–Happle syndrome: histological, biochemical and genetic testing correlation. (5th October 2015) Authors: Leclerc‐Mercier, S.; Dufernez, F.; Fraitag, S.; Coulombe, J.; Dompmartin, A.; Barreau, M.; Bozon, D.; Lamazière, A.; Bonnefont, J.‐P.; Khalifa, E.; Bodemer, C.; Hadj‐Rabia, S. Journal: British journal of dermatology Issue: Volume 173:Number 5(2015:Nov.) Page Start: 1316 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Single, short in‐del, and copy number variations detection in monogenic dyslipidemia using a next‐generation sequencing strategy. Issue 1 (25th April 2018) Authors: Marmontel, O.; Charrière, S.; Simonet, T.; Bonnet, V.; Dumont, S.; Mahl, M.; Jacobs, C.; Nony, S.; Chabane, K.; Bozon, D.; Janin, A.; Peretti, N.; Lachaux, A.; Bardel, C.; Millat, G.; Moulin, P.; Marçais, C.; Di Filippo, M. Journal: Clinical genetics Issue: Volume 94:Issue 1(2018) Page Start: 132 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗