Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.

Por Matthijs, G, Schollen, E, Van Schaftingen, E, Cassiman, J J, Jaeken, J
Publicado em 1998

Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymes.

Por Pirard, M, Achouri, Y, Collet, J F, Schollen, E, Matthijs, G, Van Schaftingen, E
Publicado em 1999

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

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

PTPN11 mutations in LEOPARD syndrome

Por Legius, E, Schrander-Stumpel, C, Schollen, E, Pulles-Heintzberg..., C, Gewillig, M, Fryns, J
Publicado em 2002

Unusual molecular findings in autosomal recessive spinal muscular atrophy.

Por Matthijs, G, Schollen, E, Legius, E, Devriendt, K, Goemans, N, Kayserili, H, Apäk, M Y, Cassiman, J J
Publicado em 1996

Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose

Por Hendriksz, C, McClean, P, Henderson, M, Keir, D, Worthington, V, Imtiaz, F, Schollen, E, Matthijs, G, Winchester, B
Publicado em 2001

Unconventional intronic splice site mutation in SCN5A associates with cardiac sodium channelopathy

Por Rossenbacker, T, Schollen, E, Kuiperi, C, de Ravel, T J L, Devriendt, K, Matthijs, G, Collen, D, Heidbuchel, H, Carmeliet, P
Publicado em 2005

Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita.

Por Devriendt, K, Matthijs, G, Legius, E, Schollen, E, Blockmans, D, van Geet, C, Degreef, H, Cassiman, J J, Fryns, J P
Publicado em 1997

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

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

Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation.

Por Jaeken, J, Matthijs, G, Saudubray, J M, Dionisi-Vici, C, Bertini, E, de Lonlay, P, Henri, H, Carchon, H, Schollen, E, Van Schaftingen, E
Publicado em 1998

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

Por 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.
Publicado em 2006