1. A new case of bent bone dysplasia—FGFR2 type and review of the literature. Issue 3 (17th November 2015) Authors: Stichelbout, Morgane; Dieux‐Coeslier, Anne; Clouqueur, Elodie; Collet, Corinne; Petit, Florence Journal: American journal of medical genetics Issue: Volume 170:Issue 3(2016) Page Start: 785 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel deep intronic variant in ATP7B in five unrelated families affected by Wilson disease. Issue 10 (8th August 2020) Authors: Woimant, France; Poujois, Aurelia; Bloch, Adrien; Jordi, Tabaras; Laplanche, Jean‐Louis; Morel, Hélène; Collet, Corinne Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 10(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature. Issue 7 (8th April 2019) Authors: Ghesh, Leila; Vincent, Marie; Delemazure, Anne‐Sophie; Boyer, Julie; Corre, Pierre; Perez, Fabienne; Geneviève, David; Laplanche, Jean‐Louis; Collet, Corinne; Isidor, Bertrand Journal: American journal of medical genetics Issue: Volume 179:Issue 7(2019) Page Start: 1390 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Camurati–engelmann disease with obesity in a newly identified family carrying a missense p.Arg156Cys mutation in the TGFB1 gene. Issue 8 (3rd July 2013) Authors: Collet, Corinne; Laplanche, Jean‐Louis; de Vernejoul, Marie‐Christine Journal: American journal of medical genetics Issue: Volume 161:Issue 8(2013:Aug.) Page Start: 2074 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome. Issue 1 (20th November 2013) Authors: Pinson, Lucile; Mannini, Linda; Willems, Marjolaine; Cucco, Francesco; Sirvent, Nicolas; Frebourg, Thierry; Quarantotti, Valentina; Collet, Corinne; Schneider, Anouck; Sarda, Pierre; Geneviève, David; Puechberty, Jacques; Lefort, Geneviève; Musio, Antonio Journal: American journal of medical genetics Issue: Volume 164:Issue 1(2014.) Page Start: 177 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Germline mutations in FGF receptors and medulloblastomas12. Issue 2 (16th January 2013) Authors: Bourdeaut, Franck; Miquel, Catherine; Di Rocco, Federico; Grison, Camille; Richer, Wilfrid; Brugieres, Laurence; Pierron, Gaelle; James, Syril; Baujat, Genevieve; Delattre, Olivier; Collet, Corinne Journal: American journal of medical genetics Issue: Volume 161:Issue 2(2013:Feb.) Page Start: 382 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Intermediate autosomal recessive osteopetrosis with a large noncoding deletion in SNX10: A case report. Issue 7 (12th April 2019) Authors: Baer, Sarah; Schaefer, Élise; Michot, Caroline; Fischbach, Michel; Morelle, Guillaume; Bendavid, Matthieu; Castelle, Martin; Moshous, Despina; Collet, Corinne Journal: Pediatric blood & cancer Issue: Volume 66:Issue 7(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. More severe phenotype of early‐onset osteoporosis associated with recessive form of LRP5 and combination with DKK1 or WNT3A. Issue 6 (3rd May 2021) Authors: Caetano da Silva, Caroline; Ricquebourg, Manon; Orcel, Philippe; Fabre, Stéphanie; Funck‐Brentano, Thomas; Cohen‐Solal, Martine; Collet, Corinne Journal: Molecular genetics & genomic medicine Issue: Volume 9:Issue 6(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Mortality and acute exacerbation of COPD: a pilot study on the influence of myocardial injury. Issue 6 (29th June 2017) Authors: Laribi, Said; Pemberton, Chris J.; Kirwan, Lyndsey; Nouira, Semir; Turkdogan, Kenan; Yilmaz, Mehmet Birhan; Troughton, Richard W.; Gayat, Etienne; Rivas-Lasarte, Mercedes; Sadoune, Malha; Sabti, Zaid; Hansconrad, Erwin; Motiejunaite, Justina; Plaisance, Patrick; Beshiri, Agim; Chen, Wenjia; Colle... Journal: European respiratory journal Issue: Volume 49:Issue 6(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. MSX2 Gene Duplication in a Patient with Eye Development Defects. (9th December 2015) Authors: Plaisancié, Julie; Collet, Corinne; Pelletier, Valerie; Perdomo, Yaumara; Studer, Fouzia; Fradin, Mélanie; Schaefer, Elise; Speeg-Schatz, Claude; Bloch-Zupan, Agnès; Flori, Elisabeth; Dollfus, Hélène Journal: Ophthalmic genetics Issue: Volume 36:Number 4(2015:Dec.) Page Start: 353 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗