1. 1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis. Issue 12 (December 1998) Authors: Knight, S W; Vulliamy, T J; Heiss, N S; Matthijs, G; Devriendt, K; Connor, J M; D'Urso, M; Poustka, A; Mason, P J; Dokal, I Journal: Journal of medical genetics Issue: Volume 35:Issue 12(1998) Page Start: 993 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases. Issue 1 (1st January 2001) Authors: de Lonlay, P; Seta, N; Barrot, S; Chabrol, B; Drouin, V; Gabriel, B M; Journel, H; Kretz, M; Laurent, J; Le Merrer, M; Leroy, A; Pedespan, D; Sarda, P; Villeneuve, N; Schmitz, J; van Schaftingen, E; Matthijs, G; Jaeken, J; Korner, C; Munnich, A Journal: Journal of medical genetics Issue: Volume 38:Issue 1(2001) Page Start: 14 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Carbohydrate deficient glycoprotein (CDG) syndrome type I. Issue 1 (January 1997) Authors: Jaeken, J; Matthijs, G; Barone, R; Carchon, H Journal: Journal of medical genetics Issue: Volume 34:Issue 1(1997) Page Start: 73 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Chromosome 15 maternal uniparental disomy and psychosis in Prader-Willi syndrome. Issue 1 (1st January 2003) Authors: Vogels, A; Matthijs, G; Legius, E; Devriendt, K; Fryns, J-P Journal: Journal of medical genetics Issue: Volume 40:Issue 1(2003) Page Start: 72 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency). Issue 7 (2nd July 2004) Authors: Schollen, E; Frank, C G; Keldermans, L; Reyntjens, R; Grubenmann, C E; Clayton, P T; Winchester, B G; Smeitink, J; Wevers, R A; Aebi, M; Hennet, T; Matthijs, G Journal: Journal of medical genetics Issue: Volume 41:Issue 7(2004) Page Start: 550 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Congenital disorder of glycosylation type Ia presenting with hydrops fetalis. Issue 4 (8th December 2006) Authors: van de Kamp, J M; Lefeber, D J; Ruijter, G J G; Steggerda, S J; den Hollander, N S; Willems, S M; Matthijs, G; Poorthuis, B J H M; Wevers, R A Journal: Journal of medical genetics Issue: Volume 44:Issue 4(2007) Page Start: 277 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia–cystinuria syndrome. Issue 5 (30th January 2008) Authors: Chabrol, B; Martens, K; Meulemans, S; Cano, A; Jaeken, J; Matthijs, G; Creemers, J W M Journal: Journal of medical genetics Issue: Volume 45:Issue 5(2008) Page Start: 314 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency. Issue 1 (16th December 2005) Authors: Van Hove, J L K; Steyaert, J; Matthijs, G; Legius, E; Theys, P; Wevers, R; Romstad, A; Møller, L B; Hedrich, K; Goriounov, D; Blau, N; Klein, C; Casaer, P Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 77:Issue 1(2006) Page Start: 18 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Increased recurrence risk in congenital disorders of glycosylation type Ia (CDG-Ia) due to a transmission ratio distortion. Issue 11 (1st November 2004) Authors: Schollen, E; Kjaergaard, S; Martinsson, T; Vuillaumier-Barrot, S; Dunoe, M; Keldermans, L; Seta, N; Matthijs, G Journal: Journal of medical genetics Issue: Volume 41:Issue 11(2004) Page Start: 877 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Localisation of the Y chromosome stature gene to a 700 kb interval in close proximity to the centromere. Issue 7 (1st July 2002) Authors: Kirsch, S; Weiss, B; Kleiman, S; Roberts, K; Pryor, J; Milunsky, A; Ferlin, A; Foresta, C; Matthijs, G; Rappold, G A Journal: Journal of medical genetics Issue: Volume 39:Issue 7(2002) Page Start: 507 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗