Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor.

Por de Graaff, E, Willemsen, R, Zhong, N, de Die-Smulders, C E, Brown, W T, Freling, G, Oostra, B
Publicado em 1995

The conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease typ...

Por Hermans, M M, de Graaff, E, Kroos, M A, Wisselaar, H A, Willemsen, R, Oostra, B A, Reuser, A J
Publicado em 1993

Characterization of FMR1 promoter elements by in vivo-footprinting analysis.

Por Schwemmle, S, de Graaff, E, Deissler, H, Gläser, D, Wöhrle, D, Kennerknecht, I, Just, W, Oostra, B A, Döerfler, W, Vogel, W, Steinbach, P, Dörfler, W
Publicado em 1997

Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data.

Por Hamel, B. C., Smits, A. P., de Graaff, E., Smeets, D. F., Schoute, F., Eussen, B. H., Knight, S. J., Davies, K. E., Assman-Hulsmans, C. F., Oostra, B. A.
Publicado em 1994