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Clinical Genetics|July 1, 1980
Prader-Willi syndrome and a bisatellited derivative of chromosome 15L P Wisniewski, M E Witt, F Ginsberg-Fellner, et al.
Science (New York, N.Y.)|September 4, 1970
Enzyme replacement in Fabry's disease, an inborn error of metabolismC A Mapes, R L Anderson, C C Sweeley, et al.
American Journal of Human Genetics|July 1, 1981
Assignment of the gene for acid beta-glucosidase to human chromosome 1B Shafit-Zagardo, E A Devine, M Smith, et al.
The Journal of Clinical Investigation|March 20, 2001
Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyriaC Solis, G I Aizencang, K H Astrin, et al.
Biochemical and Biophysical Research Communications|July 24, 1998
Genomic structure, chromosomal localization, and expression of human cathepsin WT Wex, B Levy, S P Smeekens, et al.
Biochemistry|November 21, 1995
Pathways of formation of glycoxidation products during glycation of collagenM C Wells-Knecht, S R Thorpe, J W Baynes
Journal of Immunology (Baltimore, Md. : 1950)|July 1, 1988
The sites of catabolism of murine monomeric IgAZ Moldoveanu, J M Epps, S R Thorpe, et al.
The Pharmacogenomics Journal|March 2, 2011
Identification of CYP2C19*4B: pharmacogenetic implications for drug metabolism including clopidogrel responsivenessS A Scott, S Martis, I Peter, et al.
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