11. Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation3. (18th January 2019) Authors: Bessis, D.; Miquel, J.; Bourrat, E.; Chiaverini, C.; Morice‐Picard, F.; Abadie, C.; Manna, F.; Baumann, C.; Best, M.; Blanchet, P.; Bursztejn, A.‐C.; Capri, Y.; Coubes, C.; Giuliano, F.; Guillaumont, S.; Hadj‐Rabia, S.; Jacquemont, M.‐L.; Jeandel, C.; Lacombe, D.; Mallet, S. Journal: British journal of dermatology Issue: Volume 180:Number 6(2019) Page Start: 1438 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
12. EFNB2 haploinsufficiency causes a syndromic neurodevelopmental disorder. Issue 6 (15th March 2018) Authors: Lévy, J.; Haye, D.; Marziliano, N.; Casu, G.; Guimiot, F.; Dupont, C.; Teissier, N.; Benzacken, B.; Gressens, P.; Pipiras, E.; Verloes, A.; Tabet, A.‐C. Journal: Clinical genetics Issue: Volume 93:Issue 6(2018) Page Start: 1141 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
13. Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator. Issue 2 (16th January 2017) Authors: Lumaka, A.; Cosemans, N.; Lulebo Mampasi, A.; Mubungu, G.; Mvuama, N.; Lubala, T.; Mbuyi‐Musanzayi, S.; Breckpot, J.; Holvoet, M.; de Ravel, T.; Van Buggenhout, G.; Peeters, H.; Donnai, D.; Mutesa, L.; Verloes, A.; Lukusa Tshilobo, P.; Devriendt, K. Journal: Clinical genetics Issue: Volume 92:Issue 2(2017) Page Start: 166 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
14. Fetal phenotypes in otopalatodigital spectrum disorders. Issue 3 (29th October 2015) Authors: Naudion, S.; Moutton, S.; Coupry, I.; Sole, G.; Deforges, J.; Guerineau, E.; Hubert, C.; Deves, S.; Pilliod, J.; Rooryck, C.; Abel, C.; Le Breton, F.; Collardeau‐Frachon, S.; Cordier, M.P.; Delezoide, A.L.; Goldenberg, A.; Loget, P.; Melki, J.; Odent, S.; Patrier, S. Journal: Clinical genetics Issue: Volume 89:Issue 3(2016) Page Start: 371 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
15. INTU‐related oral‐facial‐digital syndrome type VI: A confirmatory report. Issue 6 (6th April 2018) Authors: Bruel, A.‐L.; Levy, J.; Elenga, N.; Defo, A.; Favre, A.; Lucron, H.; Capri, Y.; Perrin, L.; Passemard, S.; Vial, Y.; Tabet, A.‐C.; Faivre, L.; Thauvin‐Robinet, C.; Verloes, A. Journal: Clinical genetics Issue: Volume 93:Issue 6(2018) Page Start: 1205 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
16. NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorder. Issue 2 (10th July 2018) Authors: Lévy, J.; Grotto, S.; Mignot, C.; Maruani, A.; Delahaye‐Duriez, A.; Benzacken, B.; Keren, B.; Haye, D.; Xavier, J.; Heulin, M.; Charles, E.; Verloes, A.; Dupont, C.; Pipiras, E.; Tabet, A.‐C. Journal: Clinical genetics Issue: Volume 94:Issue 2(2018) Page Start: 264 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
17. Refining the phenotypical and mutational spectrum of Taybi‐Linder syndrome. Issue 6 (2nd June 2016) Authors: Putoux, A.; Alqahtani, A.; Pinson, L.; Paulussen, A.D.C.; Michel, J.; Besson, A.; Mazoyer, S.; Borg, I.; Nampoothiri, S.; Vasiljevic, A.; Uwineza, A.; Boggio, D.; Champion, F.; de Die‐Smulders, C.E.; Gardeitchik, T.; van Putten, W.K.; Perez, M.J.; Musizzano, Y.; Razavi, F.; Drunat, S. Journal: Clinical genetics Issue: Volume 90:Issue 6(2016) Page Start: 550 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
18. 努南综合征的皮肤病表现. (1st June 2019) Authors: Bessis, D.; Miquel, J.; Bourrat, E.; Chiaverini, C.; Morice‐Picard, F.; Abadie, C.; Manna, F.; Baumann, C.; Best, M.; Blanchet, P.; Bursztejn, A.‐C.; Capri, Y.; Coubes, C.; Giuliano, F.; Guillaumont, S.; Hadj‐Rabia, S.; Jacquemont, M.‐L.; Jeandel, C.; Lacombe, D.; Mallet, S. Journal: British journal of dermatology Issue: Volume 180:Number 6(2019) Page Start: e266 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
19. 努南综合征的皮肤病表现. (3rd June 2019) Authors: Bessis, D.; Miquel, J.; Bourrat, E.; Chiaverini, C.; Morice‐Picard, F.; Abadie, C.; Manna, F.; Baumann, C.; Best, M.; Blanchet, P.; Bursztejn, A.‐C.; Capri, Y.; Coubes, C.; Giuliano, F.; Guillaumont, S.; Hadj‐Rabia, S.; Jacquemont, M.‐L.; Jeandel, C.; Lacombe, D.; Mallet, S. Journal: British journal of dermatology Issue: Volume 180:Number 6(2019) Page Start: e266 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
20. 心脸皮肤综合症中的皮肤表现. (1st January 2019) Authors: Bessis, D.; Morice‐Picard, F.; Bourrat, E.; Abadie, C.; Aouinti, S.; Baumann, C.; Best, M.; Bursztejn, A.‐C.; Capri, Y.; Chiaverini, C.; Coubes, C.; Giuliano, F.; Hadj‐Rabia, S.; Jacquemont, M.‐L.; Lacombe, D.; Lyonnet, S.; Mallet, S.; Mazereeuw‐Hautier, J.; Miquel, J.; Molinari, N. Journal: British journal of dermatology Issue: Volume 180:Number 1(2019) Page Start: e30 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗