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The Journal of Biological Chemistry
|
March 5, 1993
A 5' splice junction mutation leading to exon deletion in an Ashkenazic Jewish family with phosphofructokinase deficiency (Tarui disease)
N Raben, J Sherman, F Miller, et al.
Neurology
|
June 1, 1994
Late-onset muscular weakness in phosphofructokinase deficiency due to exon 5/intron 5 junction point mutation: a unique disorder or the natural course of this glycolytic disorder?
Z Argov, V Barash, D Soffer, et al.
Human Mutation
|
April 3, 1999
Novel mutations in African American patients with glycogen storage disease Type II. Mutations in brief no. 209. Online
N Raben, E Lee, L Lee, et al.
Gene
|
April 3, 1995
Human isoleucyl-tRNA synthetase: sequence of the cDNA, alternative mRNA splicing, and the characteristics of an unusually long C-terminal extension
R C Nichols, N Raben, C F Boerkoel, et al.
Clinical and Experimental Immunology
|
September 16, 1998
A variety of cytokines and immunologically relevant surface molecules are expressed by normal human skeletal muscle cells under proinflammatory stimuli
K Nagaraju, N Raben, G Merritt, et al.
Nucleic Acids Research
|
March 11, 1992
Human histidyl-tRNA synthetase: recognition of amino acid signature regions in class 2a aminoacyl-tRNA synthetases
N Raben, F Borriello, J Amin, et al.
Genomics
|
August 15, 1996
Genomic organization of SLC3A1, a transporter gene mutated in cystinuria
E Pras, R Sood, N Raben, et al.
Muscle & Nerve. Supplement
|
January 1, 1995
Various classes of mutations in patients with phosphofructokinase deficiency (Tarui's disease)
N Raben, J B Sherman, E Adams, et al.
American Journal of Human Genetics
|
July 1, 1996
Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions
R C Nichols, O Rudolphi, B Ek, et al.
The Journal of Biological Chemistry
|
October 20, 2000
Transcriptional regulation of the human acid alpha-glucosidase gene. Identification of a repressor element and its transcription factors Hes-1 and YY1
B Yan, J Heus, N Lu, et al.
Page
of 5
Search research articles
Search
Showing results (11-20 of 49) with videos related to
Sort By:
Page
of 5
The Journal of Biological Chemistry
|
March 5, 1993
A 5' splice junction mutation leading to exon deletion in an Ashkenazic Jewish family with phosphofructokinase deficiency (Tarui disease)
N Raben, J Sherman, F Miller, et al.
Neurology
|
June 1, 1994
Late-onset muscular weakness in phosphofructokinase deficiency due to exon 5/intron 5 junction point mutation: a unique disorder or the natural course of this glycolytic disorder?
Z Argov, V Barash, D Soffer, et al.
Human Mutation
|
April 3, 1999
Novel mutations in African American patients with glycogen storage disease Type II. Mutations in brief no. 209. Online
N Raben, E Lee, L Lee, et al.
Gene
|
April 3, 1995
Human isoleucyl-tRNA synthetase: sequence of the cDNA, alternative mRNA splicing, and the characteristics of an unusually long C-terminal extension
R C Nichols, N Raben, C F Boerkoel, et al.
Clinical and Experimental Immunology
|
September 16, 1998
A variety of cytokines and immunologically relevant surface molecules are expressed by normal human skeletal muscle cells under proinflammatory stimuli
K Nagaraju, N Raben, G Merritt, et al.
Nucleic Acids Research
|
March 11, 1992
Human histidyl-tRNA synthetase: recognition of amino acid signature regions in class 2a aminoacyl-tRNA synthetases
N Raben, F Borriello, J Amin, et al.
Genomics
|
August 15, 1996
Genomic organization of SLC3A1, a transporter gene mutated in cystinuria
E Pras, R Sood, N Raben, et al.
Muscle & Nerve. Supplement
|
January 1, 1995
Various classes of mutations in patients with phosphofructokinase deficiency (Tarui's disease)
N Raben, J B Sherman, E Adams, et al.
American Journal of Human Genetics
|
July 1, 1996
Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions
R C Nichols, O Rudolphi, B Ek, et al.
The Journal of Biological Chemistry
|
October 20, 2000
Transcriptional regulation of the human acid alpha-glucosidase gene. Identification of a repressor element and its transcription factors Hes-1 and YY1
B Yan, J Heus, N Lu, et al.
Page
of 5