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The Journal of Clinical Investigation|February 1, 1992
Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase geneC A Warner, H W Yoo, A G Roberts, et al.American Journal of Ophthalmology|April 1, 1979
Factors for improved genetic counseling for retinoblastoma based on a survey of 55 familiesE A Carlson, R D Letson, N K Ramsay, et al.Molecular Genetics and Metabolism|June 2, 2001
Nonradioactive detection of the common Connexin 26 167delT and 35delG mutations and frequencies among Ashkenazi JewsJ Dong, D R Katz, C M Eng, et al.Seminars in Liver Disease|March 28, 1998
Molecular genetics of congenital erythropoietic porphyriaR J Desnick, I A Glass, W Xu, et al.Journal of Human Genetics|April 27, 2001
Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotypeG A Ashley, J Shabbeer, M Yasuda, et al.Nature Genetics|July 3, 1999
Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndromeG A Diaz, M Banikazemi, K Oishi, et al.Biochimica Et Biophysica Acta|September 2, 1987
Human acid beta-glucosidase: use of inhibitors, alternative substrates and amphiphiles to investigate the properties of the normal and Gaucher disease active sitesK Osiecki-Newman, D Fabbro, G Legler, et al.Genes, Chromosomes & Cancer|December 29, 1999
Malignant fibrous histiocytoma: inherited and sporadic forms have loss of heterozygosity at chromosome bands 9p21-22-evidence for a common genetic defectJ A Martignetti, B D Gelb, H Pierce, et al.Clinical Genetics|May 1, 1985
Glycosphingolipid studies of visceral tissues and brain from type 1 Gaucher disease variantsO Nilsson, G A Grabowski, M D Ludman, et al.The Journal of Biological Chemistry|September 5, 1985
Glycation of amino groups in protein. Studies on the specificity of modification of RNase by glucoseN G Watkins, S R Thorpe, J W BaynesPageof 40