Showing results (51-60 of 110) with videos related to
Sort By:
Pageof 11
American Journal of Human Genetics|September 1, 1995
Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumorE de Graaff, R Willemsen, N Zhong, et al.Psychoneuroendocrinology|May 13, 2008
Altered hypothalamus-pituitary-adrenal gland axis regulation in the expanded CGG-repeat mouse model for fragile X-associated tremor/ataxia syndromeJ R Brouwer, E Severijnen, F H de Jong, et al.Human Genetics|September 15, 2000
Rapid FMR1-protein analysis of fetal blood: an enhancement of prenatal diagnosticsN Lambiris, H Peters, R Bollmann, et al.Human Molecular Genetics|December 1, 1993
Characterization and localization of the Huntington disease gene productA T Hoogeveen, R Willemsen, N Meyer, et al.The Biochemical Journal|February 1, 1993
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 type IIM M Hermans, E de Graaff, M A Kroos, et al.The Histochemical Journal|October 1, 1991
A quantitative immunoelectronmicroscopic study on soluble, membrane-associated and membrane-bound lysosomal enzymes in human intestinal epithelial cellsR Willemsen, R Brünken, C W Sorber, et al.Journal of Inherited Metabolic Disease|January 1, 1988
alpha-N-acetylgalactosaminidase deficiency, a new lysosomal storage disorderO P van Diggelen, D Schindler, R Willemsen, et al.Ultrastructural Pathology|September 1, 1993
Synthesis and in situ localization of lysosomal alpha-glucosidase in muscle of an unusual variant of glycogen storage disease type IIR Willemsen, A T van der Ploeg, H F Busch, et al.The Journal of Pediatrics|September 1, 1994
alpha-N-acetylgalactosaminidase deficiency with mild clinical manifestations and difficult biochemical diagnosisJ de Jong, C van den Berg, H Wijburg, et al.Lancet (London, England)|May 6, 1995
Rapid antibody test for fragile X syndromeR Willemsen, S Mohkamsing, B de Vries, et al.Pageof 11