1. Early seizures and cerebral oedema after trivial head trauma associated with the CACNA1A S218L mutation. Issue 10 (10th June 2009) Authors: Stam, A H; Luijckx, G-J; Poll-Thé, B T; Ginjaar, I B; Frants, R R; Haan, J; Ferrari, M D; Terwindt, G M; van den Maagdenberg, A M J M Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 80:Issue 10(2009) Page Start: 1125 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Immunohistochemical studies show truncated dystrophins in the myotubes of three fetuses at risk for Duchenne muscular dystrophy. Issue 8 (August 1991) Authors: Ginjaar, I B; Bakker, E; van Paassen, M M; den Dunnen, J T; Wessels, A; Zubrzycka-Gaarn, E E; Moorman, A F; van Ommen, G J Journal: Journal of medical genetics Issue: Volume 28:Issue 8(1991) Page Start: 505 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 1. Trends across the clinical groups. Issue 9 (September 1993) Authors: Nicholson, L V; Johnson, M A; Bushby, K M; Gardner-Medwin, D; Curtis, A; Ginjaar, I B; den Dunnen, J T; Welch, J L; Butler, T J; Bakker, E Journal: Journal of medical genetics Issue: Volume 30:Issue 9(1993) Page Start: 728 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 2. Correlations within individual patients. Issue 9 (September 1993) Authors: Nicholson, L V; Johnson, M A; Bushby, K M; Gardner-Medwin, D; Curtis, A; Ginjaar, I B; den Dunnen, J T; Welch, J L; Butler, T J; Bakker, E Journal: Journal of medical genetics Issue: Volume 30:Issue 9(1993) Page Start: 737 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 3. Differential diagnosis and prognosis. Issue 9 (September 1993) Authors: Nicholson, L V; Johnson, M A; Bushby, K M; Gardner-Medwin, D; Curtis, A; Ginjaar, I B; den Dunnen, J T; Welch, J L; Butler, T J; Bakker, E Journal: Journal of medical genetics Issue: Volume 30:Issue 9(1993) Page Start: 745 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Predicted and observed sizes of dystrophin in some patients with gene deletions that disrupt the open reading frame. Issue 12 (December 1992) Authors: Nicholson, L V; Bushby, K M; Johnson, M A; den Dunnen, J T; Ginjaar, I B; van Ommen, G J Journal: Journal of medical genetics Issue: Volume 29:Issue 12(1992) Page Start: 892 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Splicing mutations in DMD/BMD detected by RT-PCR/PTT: detection of a 19AA insertion in the cysteine rich domain of dystrophin compatible with BMD. Issue 11 (November 1996) Authors: Roest, P A; Bout, M; van der Tuijn, A C; Ginjaar, I B; Bakker, E; Hogervorst, F B; van Ommen, G J; den Dunnen, J T Journal: Journal of medical genetics Issue: Volume 33:Issue 11(1996) Page Start: 935 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol. Issue 10 (October 1997) Authors: van Essen, A J; Kneppers, A L; van der Hout, A H; Scheffer, H; Ginjaar, I B; ten Kate, L P; van Ommen, G J; Buys, C H; Bakker, E Journal: Journal of medical genetics Issue: Volume 34:Issue 10(1997) Page Start: 805 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗