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E R McCabe

Showing results (141-150 of 160) with videos related to

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Nature Genetics|August 1, 1994
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversalB Bardoni, E Zanaria, S Guioli, et al.
American Journal of Human Genetics|December 12, 2000
Primate DAX1, SRY, and SOX9: evolutionary stratification of sex-determination pathwayM Patel, K S Dorman, Y H Zhang, et al.
Birth Defects Original Article Series|January 1, 1990
A study of medical costs associated with selected genetic disorders in TexasE R McCabe, P J Patterson, H Botsonis, et al.
Archives of Pathology & Laboratory Medicine|November 1, 1993
Unbiased analysis of the frequency of beta-thalassemia point mutations in a population of African-American newbornsD A Sylvester-Jackson, S L Page, J M White, et al.
Human Mutation|March 29, 2000
AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiencyY Zhang, K M Dipple, E Vilain, et al.
Birth Defects Original Article Series|January 1, 1990
Needs assessment for genetic services in TexasE R McCabe, P J Patterson, H Botsonis, et al.
The Journal of Clinical Investigation|January 1, 1989
Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasiaE R McCabe, J Towbin, J Chamberlain, et al.
Nature|December 15, 1994
An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenitaE Zanaria, F Muscatelli, B Bardoni, et al.
Pediatrics|November 10, 2000
Final report of the FOPE II Pediatric Subspecialists of the Future WorkgroupA Gruskin, R G Williams, E R McCabe, et al.
The Journal of Clinical Endocrinology and Metabolism|July 1, 1996
Genomic sequence of the DAX1 gene: an orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadismW Guo, T P Burris, Y H Zhang, et al.
Pageof 16

Showing results (141-150 of 160) with videos related to

Sort By:
Pageof 16
Nature Genetics|August 1, 1994
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversalB Bardoni, E Zanaria, S Guioli, et al.
American Journal of Human Genetics|December 12, 2000
Primate DAX1, SRY, and SOX9: evolutionary stratification of sex-determination pathwayM Patel, K S Dorman, Y H Zhang, et al.
Birth Defects Original Article Series|January 1, 1990
A study of medical costs associated with selected genetic disorders in TexasE R McCabe, P J Patterson, H Botsonis, et al.
Archives of Pathology & Laboratory Medicine|November 1, 1993
Unbiased analysis of the frequency of beta-thalassemia point mutations in a population of African-American newbornsD A Sylvester-Jackson, S L Page, J M White, et al.
Human Mutation|March 29, 2000
AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiencyY Zhang, K M Dipple, E Vilain, et al.
Birth Defects Original Article Series|January 1, 1990
Needs assessment for genetic services in TexasE R McCabe, P J Patterson, H Botsonis, et al.
The Journal of Clinical Investigation|January 1, 1989
Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasiaE R McCabe, J Towbin, J Chamberlain, et al.
Nature|December 15, 1994
An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenitaE Zanaria, F Muscatelli, B Bardoni, et al.
Pediatrics|November 10, 2000
Final report of the FOPE II Pediatric Subspecialists of the Future WorkgroupA Gruskin, R G Williams, E R McCabe, et al.
The Journal of Clinical Endocrinology and Metabolism|July 1, 1996
Genomic sequence of the DAX1 gene: an orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadismW Guo, T P Burris, Y H Zhang, et al.
Pageof 16