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2. Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. Issue 11 (15th July 2008)

Authors:
Koolen, D A; Sharp, A J; Hurst, J A; Firth, H V; Knight, S J L; Goldenberg, A; Saugier-Veber, P; Pfundt, R; Vissers, L E L M; Destrée, A; Grisart, B; Rooms, L; Van der Aa, N; Field, M; Hackett, A; Bell, K; Nowaczyk, M J M; Mancini, G M S; Poddighe, P J; Schwartz, C E
Journal:
Journal of medical genetics
Issue:
Volume 45:Issue 11(2008)
Page Start:
710
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. 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) ↗

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