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. Clinical spectrum of eye malformations in four patients with Mowat–Wilson syndrome. (21st April 2015) Authors: Bourchany, A.; Giurgea, I.; Thevenon, J.; Goldenberg, A.; Morin, G.; Bremond‐Gignac, D.; Paillot, C.; Lafontaine, P. O.; Thouvenin, D.; Massy, J.; Duncombe, A.; Thauvin‐Robinet, C.; Masurel‐Paulet, A.; Chehadeh, S. El; Huet, F.; Bron, A.; Creuzot‐Garcher, C.; Lyonnet, S.; Faivre, L. Journal: American journal of medical genetics Issue: Volume 167:Number 7(2015:Jul.) Page Start: 1587 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Dermatological manifestations of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP): a case series of 28 patients. (10th April 2019) Authors: Chasseuil, E.; McGrath, J.A.; Seo, A.; Balguerie, X.; Bodak, N.; Chasseuil, H.; Denis‐Musquer, M.; Goldenberg, A.; Goussot, R.; Irvine, A.D.; Khumalo, N.P.; King, M.C.; Küry, S.; Lipsker, D.; Mallet, S.; Mayosi, B.M.; Nanda, A.; Puzenat, E.; Salort‐Campana, E.; Sidbury, R. Journal: British journal of dermatology Issue: Volume 181:Number 4(2019) Page Start: 862 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Dermatological manifestations of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP): a case series of 28 patients. (1st October 2019) Authors: Chasseuil, E.; McGrath, J.A.; Seo, A.; Balguerie, X.; Bodak, N.; Chasseuil, H.; Denis‐Musquer, M.; Goldenberg, A.; Goussot, R.; Irvine, A.D.; Khumalo, N.P.; King, M.C.; Küry, S.; Lipsker, D.; Mallet, S.; Mayosi, B.M.; Nanda, A.; Puzenat, E.; Salort‐Campana, E.; Sidbury, R. Journal: British journal of dermatology Issue: Volume 181:Number 4(2019) Page Start: 862 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Diagnostic test accuracy review of laparoscopy in pancreatic cancer. (April 2016) Authors: Lustosa, S.; Rezende, A.; Garani, F.; Farah, J.; Cavalcanti, A.; Goldenberg, A.; Lustosa, P.; Matos, D. Journal: HPB Issue: Volume 18(2016)Supplement 1 Page Start: e368 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗
7. Genetic counselling difficulties and ethical implications of incidental findings from array‐CGH: a 7‐year national survey. Issue 5 (4th January 2016) Authors: Lefebvre, M.; Sanlaville, D.; Marle, N.; Thauvin‐Robinet, C.; Gautier, E.; Chehadeh, S.E.; Mosca‐Boidron, A.‐L.; Thevenon, J.; Edery, P.; Alex‐Cordier, M.‐P.; Till, M.; Lyonnet, S.; Cormier‐Daire, V.; Amiel, J.; Philippe, A.; Romana, S.; Malan, V.; Afenjar, A.; Marlin, S.; Chantot‐Bastaraud, S. Journal: Clinical genetics Issue: Volume 89:Issue 5(2016) Page Start: 630 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. IL11RA‐related Crouzon‐like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences. Issue 3 (23rd July 2018) Authors: Brischoux‐Boucher, E.; Trimouille, A.; Baujat, G.; Goldenberg, A.; Schaefer, E.; Guichard, B.; Hannequin, P.; Paternoster, G.; Baer, S.; Cabrol, C.; Weber, E.; Godfrin, G.; Lenoir, M.; Lacombe, D.; Collet, C.; Van Maldergem, L. Journal: Clinical genetics Issue: Volume 94:Issue 3/4(2018) Page Start: 373 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Key characteristics of basal cell carcinoma with large subclinical extension. (26th November 2019) Authors: Greywal, T.; Goldenberg, A.; Eimpunth, S.; Jiang, S.B. Journal: Journal of the European Academy of Dermatology and Venereology Issue: Volume 34:Number 3(2020) Page Start: 485 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Mixed acinar-endocrine carcinoma of the pancreas. (April 2016) Authors: Apodaca-Torrez, F.; Pereira, L.C.; Isaacs, R.; Goldenberg, A.; Lobo, E.J. Journal: HPB Issue: Volume 18(2016)Supplement 1 Page Start: e380 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗