1. A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome. Issue 1 (January 1995) Authors: Hol, F A; Hamel, B C; Geurds, M P; Mullaart, R A; Barr, F G; Macina, R A; Mariman, E C Journal: Journal of medical genetics Issue: Volume 32:Issue 1(1995) Page Start: 52 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Absence of linkage between familial neural tube defects and PAX3 gene. Issue 3 (March 1995) Authors: Chatkupt, S; Hol, F A; Shugart, Y Y; Geurds, M P; Stenroos, E S; Koenigsberger, M R; Hamel, B C; Johnson, W G; Mariman, E C Journal: Journal of medical genetics Issue: Volume 32:Issue 3(1995) Page Start: 200 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida. Issue 8 (August 1996) Authors: Hol, F A; Geurds, M P; Chatkupt, S; Shugart, Y Y; Balling, R; Schrander-Stumpel, C T; Johnson, W G; Hamel, B C; Mariman, E C Journal: Journal of medical genetics Issue: Volume 33:Issue 8(1996) Page Start: 655 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Sex ratios of affected and transmitting members of multiple case families with neural tube defects. Issue 10 (October 1992) Authors: Mariman, E C; Hamel, B C Journal: Journal of medical genetics Issue: Volume 29:Issue 10(1992) Page Start: 695 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗