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Human Molecular Genetics
|
May 1, 1997
Profound biotinidase deficiency caused by a point mutation that creates a downstream cryptic 3' splice acceptor site within an exon of the human biotinidase gene
R J Pomponio, T R Reynolds, H Mandel, et al.
Pediatric Research
|
December 13, 1997
Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis
R J Pomponio, J Hymes, T R Reynolds, et al.
The Journal of Surgical Research
|
May 1, 1994
Reversal of ventricular contracture during hypothermic cardioplegic arrest
P S Hedberg, D F Torchiana, T R Reynolds, 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 States
K 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 children
R J Pomponio, K J Norrgard, J Hymes, et al.
The Journal of Biological Chemistry
|
March 4, 1994
Human serum biotinidase. cDNA cloning, sequence, and characterization
H Cole, T R Reynolds, J M Lockyer, et al.
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of 2
Search research articles
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Showing results (11-20 of 16) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 16 results.
Human Molecular Genetics
|
May 1, 1997
Profound biotinidase deficiency caused by a point mutation that creates a downstream cryptic 3' splice acceptor site within an exon of the human biotinidase gene
R J Pomponio, T R Reynolds, H Mandel, et al.
Pediatric Research
|
December 13, 1997
Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis
R J Pomponio, J Hymes, T R Reynolds, et al.
The Journal of Surgical Research
|
May 1, 1994
Reversal of ventricular contracture during hypothermic cardioplegic arrest
P S Hedberg, D F Torchiana, T R Reynolds, 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 States
K 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 children
R J Pomponio, K J Norrgard, J Hymes, et al.
The Journal of Biological Chemistry
|
March 4, 1994
Human serum biotinidase. cDNA cloning, sequence, and characterization
H Cole, T R Reynolds, J M Lockyer, et al.
Page
of 2