Search

Author/Creator de Leeuw, N

1. A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis. Issue 2 (1st February 2008)

Authors:
de Leeuw, N; Pfundt, R; Koolen, D A; Neefs, I; Scheltinga, I; Mieloo, H; Sistermans, E A; Nillesen, W; Smeets, D F; de Vries, B B A; Knoers, N V A M
Journal:
Journal of medical genetics
Issue:
Volume 45:Issue 2(2008)
Page Start:
122
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features. Issue 2 (17th December 2011)

Authors:
Molin, A-M; Andrieux, J; Koolen, D A; Malan, V; Carella, M; Colleaux, L; Cormier-Daire, V; David, A; de Leeuw, N; Delobel, B; Duban-Bedu, B; Fischetto, R; Flinter, F; Kjaergaard, S; Kok, F; Krepischi, A C; Le Caignec, C; Ogilvie, C Mackie; Maia, S; Mathieu-Dramard, M
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 2(2012)
Page Start:
104
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. 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) ↗

5. 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) ↗

6. Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis. Issue 9 (24th June 2010)

Authors:
Faas, B H W; van der Burgt, I; Kooper, A J A; Pfundt, R; Hehir-Kwa, J Y; Smits, A P T; de Leeuw, N
Journal:
Journal of medical genetics
Issue:
Volume 47:Issue 9(2010)
Page Start:
586
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗