1. A cystic fibrosis patient homozygous for the nonsense mutation R553X. Issue 10 (October 1991) Authors: Bal, J; Stuhrmann, M; Schloesser, M; Schmidtke, J; Reiss, J Journal: Journal of medical genetics Issue: Volume 28:Issue 10(1991) Page Start: 715 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A female with XO/XY mosaicism and partial trisomy 9p. Issue 6 (December 1981) Authors: Klasen, M; Hansmann, I; Schmid, M; Schmidtke, J Journal: Journal of medical genetics Issue: Volume 18:Issue 6(1981) Page Start: 482 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. CFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553X. Issue 10 (October 1993) Authors: Will, K; Reiss, J; Dean, M; Schlösser, M; Slomski, R; Schmidtke, J; Stuhrmann, M Journal: Journal of medical genetics Issue: Volume 30:Issue 10(1993) Page Start: 833 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. DNA Fingerprinting. (2020) Authors: Krawczak, M; Schmidtke, J Record Type: Book Extent: 1 online resource (124 pages) View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Exclusion of close linkage between the parathyroid hormone gene and a mutant gene locus causing idiopathic hypoparathyroidism. Issue 3 (June 1986) Authors: Schmidtke, J; Kruse, K; Pape, B; Sippell, G Journal: Journal of medical genetics Issue: Volume 23:Issue 3(1986) Page Start: 217 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis. Issue 12 (December 1997) Authors: el-Harith, E A; Dörk, T; Stuhrmann, M; Abu-Srair, H; al-Shahri, A; Keller, K M; Lentze, M J; Schmidtke, J Journal: Journal of medical genetics Issue: Volume 34:Issue 12(1997) Page Start: 996 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗