1. A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome. Issue 5 (3rd February 2016) Authors: Nizon, M.; Henry, M.; Michot, C.; Baumann, C.; Bazin, A.; Bessières, B.; Blesson, S.; Cordier‐Alex, M.‐P.; David, A.; Delahaye‐Duriez, A.; Delezoïde, A.‐L.; Dieux‐Coeslier, A.; Doco‐Fenzy, M.; Faivre, L.; Goldenberg, A.; Layet, V.; Loget, P.; Marlin, S.; Martinovic, J.; Odent, S. Journal: Clinical genetics Issue: Volume 89:Issue 5(2016) Page Start: 584 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Bilateral amastia in a female with X‐linked hypohidrotic ectodermal dysplasia. (11th August 2014) Authors: Al Marzouqi, F.; Michot, C.; Dos Santos, S.; Bonnefont, J.‐P.; Bodemer, C.; Hadj‐Rabia, S. Journal: British journal of dermatology Issue: Volume 171:Number 3(2014:Sep.) Page Start: 671 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Bilateral amastia in a female with X‐linked hypohidrotic ectodermal dysplasia. (11th August 2014) Authors: Al Marzouqi, F.; Michot, C.; Dos Santos, S.; Bonnefont, J.‐P.; Bodemer, C.; Hadj‐Rabia, S. Journal: British journal of dermatology Issue: Volume 171:Number 3(2014:Sep.) Page Start: 671 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Bilateral amastia in a female with X‐linked hypohidrotic ectodermal dysplasia. (1st September 2014) Authors: Al Marzouqi, F.; Michot, C.; Dos Santos, S.; Bonnefont, J.‐P.; Bodemer, C.; Hadj‐Rabia, S. Journal: British journal of dermatology Issue: Volume 171:Number 3(2014:Sep.) Page Start: 671 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. 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) ↗
7. MtDNA mutations variously impact mtDNA maintenance throughout the human embryofetal development. (3rd February 2015) Authors: Steffann, J.; Monnot, S.; Bonnefont, J.‐P. Journal: Clinical genetics Issue: Volume 88:Number 5(2015:Nov.) Page Start: 416 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Unique subungueal keratoacanthoma revealing incontinentia pigmenti. (21st September 2015) Authors: Ferneiny, M.; Hadj‐Rabia, S.; Regnier, S.; Ortonne, N.; Smahi, A.; Steffann, J.; Bonnefont, J.‐P.; Fraitag, S.; Chosidow, O.; Bodemer, C. Journal: Journal of the European Academy of Dermatology and Venereology Issue: Volume 30:Number 8(2016:Aug.) Page Start: 1401 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗