Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene

Por Eiberg, H, Hansen, L, Kjer, B, Hansen, T, Pedersen, O, Bille, M, Rosenberg, T, Tranebjærg, L
Publicado em 2006

Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome)

Por Kjaer, K, Hansen, L, Schwabe, G, Marques-de-Faria, A, Eiberg, H, Mundlos, S, Tommerup, N, Rosenberg, T
Publicado em 2005

A mutation in the receptor binding site of GDF5 causes Mohr‐Wriedt brachydactyly type A2

Por Kjaer, K W, Eiberg, H, Hansen, L, van der Hagen, C B, Rosendahl, K, Tommerup, N, Mundlos, S
Publicado em 2006

Autosomal dominant pure spastic paraplegia: a clinical, paraclinical, and genetic study

Por Nielsen, J, Krabbe, K, Jennum, P, Koefoed, P, Jensen, L, Fenger, K, Eiberg, H, Hasholt, L, Werdelin, L, Sorensen, S
Publicado em 1998

Loss of heterozygosity at 9q33 and hypermethylation of the DBCCR1 gene in oral squamous cell carcinoma

Por Gao, S, Worm, J, Guldberg, P, Eiberg, H, Krogdahl, A, Sørensen, J A, Liu, C-J, Reibel, J, Dabelsteen, E
Publicado em 2004

An exclusion map of Marfan syndrome.

Por Blanton, S H, Sarfarazi, M, Eiberg, H, de Groote, J, Farndon, P A, Kilpatrick, M W, Child, A H, Pope, F M, Peltonen, L, Francomano, C A
Publicado em 1990

Linkage studies of Friedreich ataxia by means of blood-group and protein markers

Por Keats, B. J. B., Ward, L. J., Lu, M., Krieger, S., Wilensky, M. A., Forster-Gibson, C. J., Roy, M., Monté, M., Barbeau, A., Simpson, N. E., Eiberg, H., Tippett, P., Williamson, R., Chamberlain, S.
Publicado em 1987