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Author/Creator Fryns, J-P

11. Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate. Issue 10 (30th September 2005)

Authors:
Laumonnier, F; Holbert, S; Ronce, N; Faravelli, F; Lenzner, S; Schwartz, C E; Lespinasse, J; Van Esch, H; Lacombe, D; Goizet, C; Phan-Dinh Tuy, F; van Bokhoven, H; Fryns, J-P; Chelly, J; Ropers, H-H; Moraine, C; Hamel, B C J; Briault, S
Journal:
Journal of medical genetics
Issue:
Volume 42:Issue 10(2005)
Page Start:
780
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

14. 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) ↗

20. Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation. Issue 5 (30th April 2004)

Authors:
Kleefstra, T; Yntema, H G; Oudakker, A R; Banning, M J G; Kalscheuer, V M; Chelly, J; Moraine, C; Ropers, H-H; Fryns, J-P; Janssen, I M; Sistermans, E A; Nillesen, W N; de Vries, L B A; Hamel, B C J; van Bokhoven, H
Journal:
Journal of medical genetics
Issue:
Volume 41:Issue 5(2004)
Page Start:
394
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗