1. A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy. Issue 11 (November 1998) Authors: Jaksch, M; Hofmann, S; Kleinle, S; Liechti-Gallati, S; Pongratz, D E; Müller-Höcker, J; Jedele, K B; Meitinger, T; Gerbitz, K D Journal: Journal of medical genetics Issue: Volume 35:Issue 11(1998) Page Start: 895 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism. Issue 10 (October 1993) Authors: Meindl, A; Hosenfeld, D; Brückl, W; Schuffenhauer, S; Jenderny, J; Bacskulin, A; Oppermann, H C; Swensson, O; Bouloux, P; Meitinger, T Journal: Journal of medical genetics Issue: Volume 30:Issue 10(1993) Page Start: 838 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Evidence for genetic heterogeneity in Best's vitelliform macular dystrophy. Issue 11 (November 1995) Authors: Mansergh, F C; Kenna, P F; Rudolph, G; Meitinger, T; Farrar, G J; Kumar-Singh, R; Scorer, J; Hally, A M; Mynett-Johnson, L; Humphries, M M Journal: Journal of medical genetics Issue: Volume 32:Issue 11(1995) Page Start: 855 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Lack of evidence for genetic heterogeneity in Best vitelliform macular dystrophy. Issue 1 (January 1998) Authors: Mansergh, F; Meitinger, T; Rodolph, G; Humphries, P; Farrar, G J Journal: Journal of medical genetics Issue: Volume 35:Issue 1(1998) Page Start: 85 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Replication of restless legs syndrome loci in three European populations. Issue 5 (10th March 2009) Authors: Kemlink, D; Polo, O; Frauscher, B; Gschliesser, V; Högl, B; Poewe, W; Vodicka, P; Vavrova, J; Sonka, K; Nevsimalova, S; Schormair, B; Lichtner, P; Silander, K; Peltonen, L; Gieger, C; Wichmann, H E; Zimprich, A; Roeske, D; Müller-Myhsok, B; Meitinger, T Journal: Journal of medical genetics Issue: Volume 46:Issue 5(2009) Page Start: 315 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗