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K J Norrgard

Showing results (1-10 of 7) with videos related to

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Molecular Genetics and Metabolism|February 3, 2000
Examination of the signal peptide region of human biotinidase using a baculovirus expression systemK J Norrgard, J Hymes, B Wolf
Pediatric Research|July 10, 1999
Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic childrenK J Norrgard, R J Pomponio, J Hymes, et al.
Human Mutation|April 17, 1999
Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening the the United States. Mutations in brief no. 128. OnlineK J Norrgard, R J Pomponio, K L Swango, et al.
Biochemical and Molecular Medicine|June 1, 1997
Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United StatesK J Norrgard, R J Pomponio, K L Swango, et al.
Human Genetics|April 1, 1997
Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic childrenR J Pomponio, K J Norrgard, J Hymes, et al.
The Journal of Pediatrics|March 20, 1998
Delayed-onset profound biotinidase deficiencyB Wolf, R J Pomponio, K J Norrgard, et al.
Human Heredity|May 9, 2000
Fine mapping of the human biotinidase gene and haplotype analysis of five common mutationsS H Blanton, A Pandya, B L Landa, et al.
Pageof 1

Showing results (1-10 of 7) with videos related to

Sort By:
Pageof 1
Molecular Genetics and Metabolism|February 3, 2000
Examination of the signal peptide region of human biotinidase using a baculovirus expression systemK J Norrgard, J Hymes, B Wolf
Pediatric Research|July 10, 1999
Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic childrenK J Norrgard, R J Pomponio, J Hymes, et al.
Human Mutation|April 17, 1999
Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening the the United States. Mutations in brief no. 128. OnlineK J Norrgard, R J Pomponio, K L Swango, et al.
Biochemical and Molecular Medicine|June 1, 1997
Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United StatesK J Norrgard, R J Pomponio, K L Swango, et al.
Human Genetics|April 1, 1997
Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic childrenR J Pomponio, K J Norrgard, J Hymes, et al.
The Journal of Pediatrics|March 20, 1998
Delayed-onset profound biotinidase deficiencyB Wolf, R J Pomponio, K J Norrgard, et al.
Human Heredity|May 9, 2000
Fine mapping of the human biotinidase gene and haplotype analysis of five common mutationsS H Blanton, A Pandya, B L Landa, et al.
Pageof 1