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Pediatric Research
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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 children
K J Norrgard, R J Pomponio, J Hymes, et al.
Molecular Genetics and Metabolism
|
August 15, 1998
Mutation in a putative glycosylation site (N489T) of biotinidase in the only known Japanese child with biotinidase deficiency
R J Pomponio, A Yamaguchi, S Arashima, et al.
The New Phytologist
|
April 20, 2021
Isolation and analysis of a symbiosis-regulated and Ras-interacting vesicular assembly protein gene from the ectomycorrhizal fungus Laccaria bicolor
Sathish Sundaram, Joshua H Brand, Matthew J Hymes, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
April 15, 1987
Immunological comparison of biotinidase in serum from normal and biotinidase-deficient individuals
B Wolf, J B Miller, J Hymes, 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.
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. Online
K 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 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.
American Journal of Medical Genetics
|
January 31, 1998
Profound biotinidase deficiency in two asymptomatic adults
B Wolf, K Norrgard, R J Pomponio, et al.
Page
of 4
Search research articles
Search
Showing results (21-30 of 32) with videos related to
Sort By:
Page
of 4
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 children
K J Norrgard, R J Pomponio, J Hymes, et al.
Molecular Genetics and Metabolism
|
August 15, 1998
Mutation in a putative glycosylation site (N489T) of biotinidase in the only known Japanese child with biotinidase deficiency
R J Pomponio, A Yamaguchi, S Arashima, et al.
The New Phytologist
|
April 20, 2021
Isolation and analysis of a symbiosis-regulated and Ras-interacting vesicular assembly protein gene from the ectomycorrhizal fungus Laccaria bicolor
Sathish Sundaram, Joshua H Brand, Matthew J Hymes, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
April 15, 1987
Immunological comparison of biotinidase in serum from normal and biotinidase-deficient individuals
B Wolf, J B Miller, J Hymes, 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.
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. Online
K 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 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.
American Journal of Medical Genetics
|
January 31, 1998
Profound biotinidase deficiency in two asymptomatic adults
B Wolf, K Norrgard, R J Pomponio, et al.
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of 4