1. Characterisation of a highly polymorphic microsatellite at the DXS207 locus: confirmation of very close linkage to the retinoschisis disease gene. Issue 4 (April 1993) Authors: Oudet, C; Weber, C; Kaplan, J; Segues, B; Croquette, M F; Roman, E O; Hanauer, A Journal: Journal of medical genetics Issue: Volume 30:Issue 4(1993) Page Start: 300 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Coffin-Lowry syndrome: clinical and molecular features. Issue 10 (1st October 2002) Authors: Hanauer, A; Young, I D Journal: Journal of medical genetics Issue: Volume 39:Issue 10(2002) Page Start: 705 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Gerstmann-Sträussler-Scheinker disease in an Alsatian family: clinical and genetic studies. Issue 3 (March 1992) Authors: Tranchant, C; Doh-ura, K; Warter, J M; Steinmetz, G; Chevalier, Y; Hanauer, A; Kitamoto, T; Tateishi, J Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 55:Issue 3(1992) Page Start: 185 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Phenotype-genotype correlations in X linked retinitis pigmentosa. Issue 9 (September 1992) Authors: Kaplan, J; Pelet, A; Martin, C; Delrieu, O; Aymé, S; Bonneau, D; Briard, M L; Hanauer, A; Larget-Piet, L; Lefrançois, P Journal: Journal of medical genetics Issue: Volume 29:Issue 9(1992) Page Start: 615 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome. Issue 11 (November 1998) Authors: Merienne, K; Jacquot, S; Trivier, E; Pannetier, S; Rossi, A; Scott, C; Schinzel, A; Castellan, C; Kress, W; Hanauer, A Journal: Journal of medical genetics Issue: Volume 35:Issue 11(1998) Page Start: 890 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. RSK2 mutation co‐segregates with X‐linked intellectual disability and attenuated Coffin–Lowry phenotype in a three‐generation family. (17th March 2013) Authors: Maystadt, I; Destree, A; Benoit, V; Aeby, A; Lederer, D; Moortgat, S; Jurkiewicz, D; Krajewska‐Walasek, M; Hanauer, A; Thomas, GM Journal: Clinical genetics Issue: Volume 85:Number 1(2014:Jan.) Page Start: 96 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome. Issue 10 (1st October 1999) Authors: Manouvrier-Hanu, S; Amiel, J; Jacquot, S; Merienne, K; Moerman, A; Coëslier, A; Labarriere, F; Vallée, L; Croquette, M F; Hanauer, A Journal: Journal of medical genetics Issue: Volume 36:Issue 10(1999) Page Start: 775 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗