1. High incidence of the R276X SALL1 mutation in sporadic but not familial Townes–Brocks syndrome and report of the first familial case. Issue 11 (19th November 2003) Authors: Kohlhase, J; Liebers, M; Backe, J; Baumann-Müller, A; Bembea, M; Destrée, A; Gattas, M; Grüßner, S; Müller, T; Mortier, G; Skrypnyk, C; Yano, S; Wirbelauer, J; Michaelis, R C Journal: Journal of medical genetics Issue: Volume 40:Issue 11(2003) Page Start: e127 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. The elusive Angelman syndrome critical region. Issue 9 (September 1997) Authors: Trent, R J; Sheffield, L J; Deng, Z M; Kim, W S; Nassif, N T; Ryce, C; Woods, C G; Michaelis, R C; Tarleton, J; Smith, A Journal: Journal of medical genetics Issue: Volume 34:Issue 9(1997) Page Start: 714 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. The mechanisms involved in formation of deletions and duplications of 15q11-q13. Issue 2 (February 1998) Authors: Robinson, W P; Dutly, F; Nicholls, R D; Bernasconi, F; Peñaherrera, M; Michaelis, R C; Abeliovich, D; Schinzel, A A Journal: Journal of medical genetics Issue: Volume 35:Issue 2(1998) Page Start: 130 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linked hydrocephalus. Issue 11 (November 1998) Authors: Michaelis, R C; Du, Y Z; Schwartz, C E Journal: Journal of medical genetics Issue: Volume 35:Issue 11(1998) Page Start: 901 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗