Showing results (71-80 of 510) with videos related to

Sort By:
Pageof 51
Human Genetics|May 8, 2000
A fragile X case with an amplification/deletion mosaic patternD García Arocena, Y de Diego, B A Oostra, et al.
European Journal of Human Genetics : EJHG|December 31, 1997
FMR1 premutation allele (CGG)81 is stable in miceC J Bontekoe, E de Graaff, I M Nieuwenhuizen, et al.
Hippocampus|March 29, 2002
Behavioral and neuroanatomical characterization of the Fmr1 knockout mouseYann S Mineur, Frans Sluyter, Sanne de Wit, et al.
Early Human Development|June 15, 2010
Predictability of cerebral palsy in a high-risk NICU populationE Himpens, A Oostra, I Franki, et al.
American Journal of Medical Genetics|July 12, 1996
Extended gene diversity at the FMR1 locus and neighbouring CA repeats in a sub-Saharan populationP Chiurazzi, G Destro-Bisol, M Genuardi, et al.
Human Molecular Genetics|November 5, 1999
Synergistic effect of histone hyperacetylation and DNA demethylation in the reactivation of the FMR1 geneP Chiurazzi, M G Pomponi, R Pietrobono, et al.
Human Mutation|January 1, 1993
Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type IIM M Hermans, M A Kroos, E de Graaff, et al.
The Journal of Biological Chemistry|July 25, 1991
Human lysosomal alpha-glucosidase. Characterization of the catalytic siteM M Hermans, M A Kroos, J van Beeumen, et al.
The Biochemical Journal|February 1, 1993
Human lysosomal alpha-glucosidase: functional characterization of the glycosylation sitesM M Hermans, H A Wisselaar, M A Kroos, et al.
Annales De Genetique|January 1, 1990
Strategy for constructing somatic hybrids isolating the two derivative chromosomes in X;autosome translocations. Application to a female patient t(X;5) with Hunter syndromeP Couillin, E Le Guern, N Ravise, et al.
Pageof 51