Increased recurrence risk in congenital disorders of glycosylation type Ia (CDG-Ia) due to a transmission ratio distortion

gan Schollen, E, Kjaergaard, S, Martinsson, T, Vuillaumier-Barro..., S, Dunoe, M, Keldermans, L, Seta, N, Matthijs, G
Cyhoeddwyd 2004

Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency)

gan Schollen, E, Frank, C, Keldermans, L, Reyntjens, R, Grubenmann, C, Clayton, P, Winchester, B, Smeitink, J, Wevers, R, Aebi, M, Hennet, T, Matthijs, G
Cyhoeddwyd 2004

ALG11-CDG: Three novel mutations and further characterization of the phenotype

gan Regal, L., van Hasselt, P.M., Foulquier, F., Cuppen, I., Prinsen, HCMT, Jansen, K., Keldermans, L., De Meirleir, L., Matthijs, G., Jaeken, J.
Cyhoeddwyd yn Mol Genet Metab Rep (2014)

The Normal Phenotype of Pmm1-Deficient Mice Suggests that Pmm1 Is Not Essential for Normal Mouse Development

gan Cromphout, K., Vleugels, W., Heykants, L., Schollen, E., Keldermans, L., Sciot, R., D'Hooge, R., De Deyn, P. P., von Figura, K., Hartmann, D., Körner, C., Matthijs, G.
Cyhoeddwyd 2006