L. Van Maldergem
Centre de Génétique Humaine
CHU Sart-Tilman
Université de Liège
4000 Liège
Belgium
Name/email consistency: high
- Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type. Van Maldergem, L., Yuksel-Apak, M., Kayserili, H., Seemanova, E., Giurgea, S., Basel-Vanagaite, L., Leao-Teles, E., Vigneron, J., Foulon, M., Greally, M., Jaeken, J., Mundlos, S., Dobyns, W.B. Neurology (2008)
- Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. Van Maldergem, L., Siitonen, H.A., Jalkh, N., Chouery, E., De Roy, M., Delague, V., Muenke, M., Jabs, E.W., Cai, J., Wang, L.L., Plon, S.E., Fourneau, C., Kestilä, M., Gillerot, Y., Mégarbané, A., Verloes, A. J. Med. Genet. (2006)
- Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type. Van Maldergem, L., Moser, A.B., Vincent, M.F., Roland, D., Reding, R., Otte, J.B., Wanders, R.J., Sokal, E. J. Inherit. Metab. Dis. (2005)
- Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy. Van Maldergem, L., Magré, J., Khallouf, T.E., Gedde-Dahl, T., Delépine, M., Trygstad, O., Seemanova, E., Stephenson, T., Albott, C.S., Bonnici, F., Panz, V.R., Medina, J.L., Bogalho, P., Huet, F., Savasta, S., Verloes, A., Robert, J.J., Loret, H., De Kerdanet, M., Tubiana-Rufi, N., Mégarbané, A., Maassen, J., Polak, M., Lacombe, D., Kahn, C.R., Silveira, E.L., D'Abronzo, F.H., Grigorescu, F., Lathrop, M., Capeau, J., O'Rahilly, S. J. Med. Genet. (2002)
- Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and early-onset liver cirrhosis in two siblings. Van Maldergem, L., Tuerlinckx, D., Wanders, R.J., Vianey-Saban, C., Van Hoof, F., Martin, J.J., Fourneau, C., Gillerot, Y., Bachy, A. Eur. J. Pediatr. (2000)