1. Identification of new mutations in the TBX5 gene in patients with Holt-Oram syndrome. (14th February 2005) Authors: Heinritz, W; Moschik, A; Kujat, A; Spranger, S; Heilbronner, H; Demuth, S; Bier, A; Tihanyi, M; Mundlos, S; Gruenauer-Kloevekorn, C; Froster, U G Journal: Heart Issue: Volume 91(2005)Supplement 3 Page Start: 383 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Muscular involvement in the Holt-Oram syndrome. Issue 12 (December 1997) Authors: Spranger, S; Ulmer, H; Tröger, J; Jansen, O; Graf, J; Meinck, H M; Spranger, M Journal: Journal of medical genetics Issue: Volume 34:Issue 12(1997) Page Start: 978 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome. Issue 5 (28th April 2006) Authors: Seifert, W; Holder-Espinasse, M; Spranger, S; Hoeltzenbein, M; Rossier, E; Dollfus, H; Lacombe, D; Verloes, A; Chrzanowska, K H; Maegawa, G H B; Chitayat, D; Kotzot, D; Huhle, D; Meinecke, P; Albrecht, B; Mathijssen, I; Leheup, B; Raile, K; Hennies, H C; Horn, D Journal: Journal of medical genetics Issue: Volume 43:Issue 5(2006) Page Start: e22 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Proximal and distal spinal muscular atrophy in one family: molecular genetic studies provide further evidence for the non-allelic origin of both diseases. Issue 4 (April 1997) Authors: Spranger, S; Rudnik-Schöneborn, S; Spranger, M; Schächtele, M; Zerres, K; Wirth, B Journal: Journal of medical genetics Issue: Volume 34:Issue 4(1997) Page Start: 340 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗