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Author/Creator Kooy, F

2. Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation. Issue 2 (1st February 2002)

Authors:
Lossi, A-M; Laugier-Anfossi, F; Depetris, D; Gecz, J; Gedeon, A; Kooy, F; Schwartz, C; Mattei, M-G; Croquette, M-F; Villard, L
Journal:
Journal of medical genetics
Issue:
Volume 39:Issue 2(2002)
Page Start:
113
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis. Issue 6 (4th January 2008)

Authors:
van Bon, B W M; Koolen, D A; Borgatti, R; Magee, A; Garcia-Minaur, S; Rooms, L; Reardon, W; Zollino, M; Bonaglia, M C; De Gregori, M; Novara, F; Grasso, R; Ciccone, R; van Duyvenvoorde, H A; Aalbers, A M; Guerrini, R; Fazzi, E; Nillesen, W M; McCullough, S; Kant, S G
Journal:
Journal of medical genetics
Issue:
Volume 45:Issue 6(2008)
Page Start:
346
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. 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) ↗