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Human Molecular Genetics
|
October 1, 1996
Deletion/insertion mutation that causes biotinidase deficiency may result from the formation of a quasipalindromic structure
R J Pomponio, V Narasimhan, T R Reynolds, et al.
Clinical Genetics
|
January 26, 2006
Two clinical forms of glycogen-storage disease type II in two generations of the same family
H Amartino, D Painceira, R J Pomponio, et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society
|
April 8, 1998
Structure of the human biotinidase gene
H C Knight, T R Reynolds, G A Meyers, et al.
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.
Journal of Inherited Metabolic Disease
|
May 9, 2000
Novel mutations cause biotinidase deficiency in Turkish children
R J Pomponio, T Coskun, M Demirkol, 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.
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 3
Search research articles
Search
Showing results (11-20 of 25) with videos related to
Sort By:
Page
of 3
Human Molecular Genetics
|
October 1, 1996
Deletion/insertion mutation that causes biotinidase deficiency may result from the formation of a quasipalindromic structure
R J Pomponio, V Narasimhan, T R Reynolds, et al.
Clinical Genetics
|
January 26, 2006
Two clinical forms of glycogen-storage disease type II in two generations of the same family
H Amartino, D Painceira, R J Pomponio, et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society
|
April 8, 1998
Structure of the human biotinidase gene
H C Knight, T R Reynolds, G A Meyers, et al.
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.
Journal of Inherited Metabolic Disease
|
May 9, 2000
Novel mutations cause biotinidase deficiency in Turkish children
R J Pomponio, T Coskun, M Demirkol, 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.
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 3