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Author/Creator Sharp, A J

1. 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. Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. Issue 8 (15th April 2009)

Authors:
van Bon, B W M; Mefford, H C; Menten, B; Koolen, D A; Sharp, A J; Nillesen, W M; Innis, J W; de Ravel, T J L; Mercer, C L; Fichera, M; Stewart, H; Connell, L E; Õunap, K; Lachlan, K; Castle, B; Van der Aa, N; van Ravenswaaij, C; Nobrega, M A; Serra-Juhé, C; Simonic, I
Journal:
Journal of medical genetics
Issue:
Volume 46:Issue 8(2009)
Page Start:
511
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. Issue 4 (11th June 2008)

Authors:
Hannes, F D; Sharp, A J; Mefford, H C; de Ravel, T; Ruivenkamp, C A; Breuning, M H; Fryns, J-P; Devriendt, K; Van Buggenhout, G; Vogels, A; Stewart, H; Hennekam, R C; Cooper, G M; Regan, R; Knight, S J L; Eichler, E E; Vermeesch, J R
Journal:
Journal of medical genetics
Issue:
Volume 46:Issue 4(2009)
Page Start:
223
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗