1. Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management. Issue 4 (27th November 2015) Authors: Avila, M.; Dyment, D.A.; Sagen, J.V.; St‐Onge, J.; Moog, U.; Chung, B.H.Y.; Mo, S.; Mansour, S.; Albanese, A.; Garcia, S.; Martin, D.O.; Lopez, A.A.; Claudi, T.; König, R.; White, S.M.; Sawyer, S.L.; Bernstein, J.A.; Slattery, L.; Jobling, R.K.; Yoon, G. Journal: Clinical genetics Issue: Volume 89:Issue 4(2016) Page Start: 501 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Diseases of adipose tissue: genetic and acquired lipodystrophies. (26th October 2005) Authors: Capeau, J.; Magré, J.; Lascols, O.; Caron, M.; Béréziat, V.; Vigouroux, C.; Bastard, J.P. Journal: Biochemical Society transactions Issue: Volume 33:Number 5(2005) Page Start: 1073 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Novel compound heterozygous ABCC2 variants in patients with Dubin‐Johnson syndrome and intrahepatic cholestasis of pregnancy. Issue 5 (9th August 2018) Authors: Huynh, M.‐T.; Chrétien, Y.; Grison, S.; Delaunay, J.‐L.; Lascols, O.; Tran, C.T.; Goria, O.; Ramond, M.‐J.; Barbu, V. Journal: Clinical genetics Issue: Volume 94:Issue 5(2018) Page Start: 480 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. One‐year metreleptin improves insulin secretion in patients with diabetes linked to genetic lipodystrophic syndromes. Issue 7 (12th January 2016) Authors: Vatier, C.; Fetita, S.; Boudou, P.; Tchankou, C.; Deville, L.; Riveline, JP.; Young, J.; Mathivon, L.; Travert, F.; Morin, D.; Cahen, J.; Lascols, O.; Andreelli, F.; Reznik, Y.; Mongeois, E.; Madelaine, I.; Vantyghem, MC.; Gautier, JF.; Vigouroux, C. Journal: Diabetes, obesity & metabolism Issue: Volume 18:Issue 7(2016) Page Start: 693 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. PV-0626 Mismatch Repair System Deficiency increases response to neoadjuvant chemoradiation in rectal cancer. (April 2019) Authors: Meillan, N.; Vernerey, D.; Lefèvre, J.H.; Manceau, G.; Svrcek, M.; Augustin, J.; Fléjou, J.; Lascols, O.; Simon, J.; Cohen, R.; Maingon, P.; Bachet, J.; Huguet, F. Journal: Radiotherapy and oncology Issue: Volume 133(2019)Supplement 1 Page Start: S333 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗