Author/Creator: Rappold, G - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Author/Creator Rappold, G

1. A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Léri–Weill dyschondrosteosis and Langer dysplasia. Issue 6 (1st June 2004)

Authors:: Sabherwal, N; Blaschke, R J; Marchini, A; Heine-Suner, D; Rosell, J; Ferragut, J; Blum, W F; Rappold, G
Journal:: Journal of medical genetics
Issue:: Volume 41:Issue 6(2004)
Page Start:: e83
Record Type:: Journal Article
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2. Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain. Issue 12 (2nd July 2009)

Authors:: Chen, J; Wildhardt, G; Zhong, Z; Röth, R; Weiss, B; Steinberger, D; Decker, J; Blum, W F; Rappold, G
Journal:: Journal of medical genetics
Issue:: Volume 46:Issue 12(2009)
Page Start:: 834
Record Type:: Journal Article
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3. Position effect on PLP1 may cause a subset of Pelizaeus-Merzbacher disease symptoms. Issue 12 (9th December 2004)

Authors:: Muncke, N; Wogatzky, B S; Breuning, M; Sistermans, E A; Endris, V; Ross, M; Vetrie, D; Catsman-Berrevoets, C E; Rappold, G
Journal:: Journal of medical genetics
Issue:: Volume 41:Issue 12(2004)
Page Start:: e121
Record Type:: Journal Article
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