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Nature|June 4, 1992
Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase geneV L Tybulewicz, M L Tremblay, M E LaMarca, et al.Human Molecular Genetics|December 1, 1996
Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosisX Y Zhou, A van der Spoel, R Rottier, et al.Human Molecular Genetics|December 1, 1994
The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type IIM M Hermans, E De Graaff, M A Kroos, et al.Human Molecular Genetics|November 1, 1995
Normal phenotype in two brothers with a full FMR1 mutationH J Smeets, A P Smits, C E Verheij, et al.Dermatology (Basel, Switzerland)|February 23, 1999
Juvenile hyaline fibromatosis: clinical heterogeneity in three patientsG M Mancini, L Stojanov, R Willemsen, et al.Experimental Cell Research|December 8, 2006
Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutationJ R Brouwer, E J Mientjes, C E Bakker, et al.Neurobiology of Disease|January 7, 2015
Fragile X mice have robust mGluR5-dependent alterations of social behaviour in the Automated Tube TestC E F de Esch, W E van den Berg, R A M Buijsen, et al.Oncogene|November 1, 1991
Human malignant mesothelioma cell lines express PDGF beta-receptors whereas cultured normal mesothelial cells express predominantly PDGF alpha-receptorsM A Versnel, L Claesson-Welsh, A Hammacher, et al.American Journal of Human Genetics|June 12, 1999
Noninvasive test for fragile X syndrome, using hair root analysisR Willemsen, B Anar, Y De Diego Otero, et al.Genes, Brain, and Behavior|July 12, 2008
Savings and extinction of conditioned eyeblink responses in fragile X syndromeA E Smit, J N van der Geest, M Vellema, et al.Pageof 11