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E R McCabe

Showing results (151-160 of 160) with videos related to

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American Journal of Diseases of Children (1960)|July 1, 1985
Infectious and bleeding complications in patients with glycogenosis IbD R Ambruso, E R McCabe, D Anderson, et al.
American Journal of Human Genetics|March 1, 1987
Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletionsU Francke, J F Harper, B T Darras, et al.
American Journal of Medical Genetics|September 1, 1988
Congenital adrenal hypoplasia and selective absence of pituitary luteinizing hormone: a new autosomal recessive syndromeB A Burke, M R Wick, R King, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|November 1, 1993
Negative-configuration electroretinogram in Oregon eye disease. Consistent phenotype in Xp21 deletion syndromeD A Pillers, W K Seltzer, B R Powell, et al.
Human Genetics|August 2, 2001
Glycerol kinase deficiency: evidence for complexity in a single gene disorderK M Dipple, Y H Zhang, B L Huang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 22, 2001
Duty to re-contactK Hirschhorn, L D Fleisher, L Godmilow, et al.
Biochemical and Molecular Medicine|April 1, 1996
Guidelines for the retention, storage, and use of residual dried blood spot samples after newborn screening analysis: statement of the Council of Regional Networks for Genetic ServicesB L Therrell, W H Hannon, K A Pass, et al.
Genomics|December 9, 2000
Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3: mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiencyL Bartoloni, M Wattenhofer, J Kudoh, et al.
Human Mutation|December 19, 2001
Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenitaY H Zhang, B L Huang, K Anyane-Yeboa, et al.
American Journal of Human Genetics|June 13, 1998
DAX1 mutations map to putative structural domains in a deduced three-dimensional modelY H Zhang, W Guo, R L Wagner, et al.
Pageof 16

Showing results (151-160 of 160) with videos related to

Sort By:
Pageof 16
You have reached the last page of results.This site can display upto 160 results.
American Journal of Diseases of Children (1960)|July 1, 1985
Infectious and bleeding complications in patients with glycogenosis IbD R Ambruso, E R McCabe, D Anderson, et al.
American Journal of Human Genetics|March 1, 1987
Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletionsU Francke, J F Harper, B T Darras, et al.
American Journal of Medical Genetics|September 1, 1988
Congenital adrenal hypoplasia and selective absence of pituitary luteinizing hormone: a new autosomal recessive syndromeB A Burke, M R Wick, R King, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|November 1, 1993
Negative-configuration electroretinogram in Oregon eye disease. Consistent phenotype in Xp21 deletion syndromeD A Pillers, W K Seltzer, B R Powell, et al.
Human Genetics|August 2, 2001
Glycerol kinase deficiency: evidence for complexity in a single gene disorderK M Dipple, Y H Zhang, B L Huang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 22, 2001
Duty to re-contactK Hirschhorn, L D Fleisher, L Godmilow, et al.
Biochemical and Molecular Medicine|April 1, 1996
Guidelines for the retention, storage, and use of residual dried blood spot samples after newborn screening analysis: statement of the Council of Regional Networks for Genetic ServicesB L Therrell, W H Hannon, K A Pass, et al.
Genomics|December 9, 2000
Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3: mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiencyL Bartoloni, M Wattenhofer, J Kudoh, et al.
Human Mutation|December 19, 2001
Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenitaY H Zhang, B L Huang, K Anyane-Yeboa, et al.
American Journal of Human Genetics|June 13, 1998
DAX1 mutations map to putative structural domains in a deduced three-dimensional modelY H Zhang, W Guo, R L Wagner, et al.
Pageof 16