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. Contribution of three‐dimensional ultrasound and three‐dimensional helical computed tomography to prenatal diagnosis of Stickler syndrome. (5th August 2019) Authors: Gueneuc, A.; Spaggiari, E.; Millischer, A. E.; Michot, C.; O'Gorman, N.; Ville, Y. Journal: Ultrasound in obstetrics & gynecology Issue: Volume 54:Number 2(2019) Page Start: 279 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Myhre syndrome. (2nd April 2014) Authors: Le Goff, C.; Michot, C.; Cormier‐Daire, V. Journal: Clinical genetics Issue: Volume 85:Number 6(2014:Jun.) Page Start: 503 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta. (June 2023) Authors: Yamaguti, P.M.; de La Dure-Molla, M.; Monnot, S.; Cardozo-Amaya, Y.J.; Baujat, G.; Michot, C.; Fournier, B.P.J.; Riou, M.C.; Caldas Rosa, E.C.C.; Soares de Lima, Y.; dos Santos, P.A.C.; Alcaraz, G.; Guerra, E.N.S.; Castro, L.C.; de Oliveira, S.F.; Pogue, R.; Berdal, A.; de Paula, L.M.; Mazzeu, J.... Journal: Journal of dental research Issue: Volume 102:Number 6(2023) Page Start: 616 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗