1. Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type. Issue 1 (1st January 2000) Authors: Faivre, Laurence; Le Merrer, Martine; Megarbane, André; Gilbert, Brigitte; Mortier, Geert; Cusin, Veronica; Munnich, Arnold; Maroteaux, Pierre; Cormier-Daire, Valérie Journal: Journal of medical genetics Issue: Volume 37:Issue 1(2000) Page Start: 52 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma. Issue 4 (12th March 2011) Authors: Gardie, Betty; Remenieras, Audrey; Kattygnarath, Darouna; Bombled, Johny; Lefèvre, Sandrine; Perrier-Trudova, Victoria; Rustin, Pierre; Barrois, Michel; Slama, Abdelhamid; Avril, Marie-Françoise; Bessis, Didier; Caron, Olivier; Caux, Frédéric; Collignon, Patrick; Coupier, Isabelle; Cremin, Carol;... Journal: Journal of medical genetics Issue: Volume 48:Issue 4(2011) Page Start: 226 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. SHOX point mutations in dyschondrosteosis. Issue 5 (1st May 2001) Authors: Huber, Céline; Cusin, Veronica; Le Merrer, Martine; Mathieu, Michèle; Sulmont, Véronique; Dagoneau, Nathalie; Munnich, Arnold; Cormier-Daire, Valérie Journal: Journal of medical genetics Issue: Volume 38:Issue 5(2001) Page Start: 323 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome. Issue 11 (17th February 2011) Authors: El Chehadeh-Djebbar, Salima; Faivre, Laurence; Moncla, Anne; Aral, Bernard; Missirian, Chantal; Popovici, Cornel; Rump, Patrick; Van Essen, Anthonie; Frances, Anne-Marie; Gigot, Nadège; Cusin, Veronica; Masurel-Paulet, Alice; Gueneau, Lucie; Payet, Muriel; Ragon, Clémence; Marle, Nathalie; Mosca-... Journal: Journal of medical genetics Issue: Volume 48:Issue 11(2011) Page Start: e1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗