1. Becker muscular dystrophy (BMD) and Klinefelter's syndrome: a possible cause of variable expression of BMD within a pedigree. Issue 4 (April 1989) Authors: Suthers, G K; Manson, J I; Stern, L M; Haan, E A; Mulley, J C Journal: Journal of medical genetics Issue: Volume 26:Issue 4(1989) Page Start: 251 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures. Issue 12 (3rd August 2007) Authors: Heron, S E; Cox, K; Grinton, B E; Zuberi, S M; Kivity, S; Afawi, Z; Straussberg, R; Berkovic, S F; Scheffer, I E; Mulley, J C Journal: Journal of medical genetics Issue: Volume 44:Issue 12(2007) Page Start: 791 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Experience with direct molecular diagnosis of fragile X. Issue 6 (June 1992) Authors: Mulley, J C; Yu, S; Gedeon, A K; Donnelly, A; Turner, G; Loesch, D; Chapman, C J; Gardner, R J; Richards, R I; Sutherland, G R Journal: Journal of medical genetics Issue: Volume 29:Issue 6(1992) Page Start: 368 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. FRAXE and mental retardation. Issue 3 (March 1995) Authors: Mulley, J C; Yu, S; Loesch, D Z; Hay, D A; Donnelly, A; Gedeon, A K; Carbonell, P; López, I; Glover, G; Gabarrón, I Journal: Journal of medical genetics Issue: Volume 32:Issue 3(1995) Page Start: 162 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Mapping the human alpha globin gene complex to 16p13.2----pter. Issue 12 (December 1987) Authors: Simmers, R N; Mulley, J C; Hyland, V J; Callen, D F; Sutherland, G R Journal: Journal of medical genetics Issue: Volume 24:Issue 12(1987) Page Start: 761 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Molecular genetics of human chromosome 16. Issue 8 (August 1987) Authors: Sutherland, G R; Reeders, S; Hyland, V J; Callen, D F; Fratini, A; Mulley, J C Journal: Journal of medical genetics Issue: Volume 24:Issue 8(1987) Page Start: 451 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Predictive diagnosis of myotonic dystrophy with flanking microsatellite markers. Issue 7 (July 1991) Authors: Mulley, J C; Gedeon, A K; White, S J; Haan, E A; Richards, R I Journal: Journal of medical genetics Issue: Volume 28:Issue 7(1991) Page Start: 448 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21. Issue 4 (April 1996) Authors: Wallace, R H; Berkovic, S F; Howell, R A; Sutherland, G R; Mulley, J C Journal: Journal of medical genetics Issue: Volume 33:Issue 4(1996) Page Start: 308 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome. Issue 5 (May 1995) Authors: Gedeon, A K; Wilson, M J; Colley, A C; Sillence, D O; Mulley, J C Journal: Journal of medical genetics Issue: Volume 32:Issue 5(1995) Page Start: 383 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗