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Human Mutation
|
January 1, 1993
An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy
J S Harvey, P V Nelson, W F Carey, et al.
Human Mutation
|
January 1, 1992
An N-acetylgalactosamine-4-sulfatase mutation (delta G238) results in a severe Maroteaux-Lamy phenotype
T Litjens, C P Morris, E F Robertson, et al.
The Biochemical Journal
|
October 1, 1995
Expression, purification and characterization of recombinant human N-acetylgalactosamine-6-sulphatase
J Bielicki, M Fuller, X H Guo, et al.
Human Mutation
|
January 1, 1995
A splicing mutation (1898 + 1G-->T) in the CFTR gene causing cystic fibrosis
J Crawford, A Labrinidis, W F Carey, et al.
Human Mutation
|
January 1, 1995
Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications
H S Scott, S Bunge, A Gal, et al.
Human Mutation
|
January 1, 1992
alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype
H S Scott, T Litjens, P V Nelson, et al.
Human Genetics
|
March 1, 1992
Mucopolysaccharidosis type I (Hurler syndrome): linkage disequilibrium indicates the presence of a major allele
H S Scott, P V Nelson, A Cooper, et al.
European Psychiatry : the Journal of the Association of European Psychiatrists
|
July 10, 2010
Analysis of HapMap tag-SNPs in dysbindin (DTNBP1) reveals evidence of consistent association with schizophrenia
J Voisey, C D Swagell, I P Hughes, et al.
Journal of Molecular Biology
|
October 20, 1989
Avian keratin genes. I. A molecular analysis of the structure and expression of a group of feather keratin genes
R B Presland, K Gregg, P L Molloy, et al.
European Psychiatry : the Journal of the Association of European Psychiatrists
|
October 12, 2010
HapMap tag-SNP analysis confirms a role for COMT in schizophrenia risk and reveals a novel association
J Voisey, C D Swagell, I P Hughes, et al.
Page
of 9
Search research articles
Search
Showing results (41-50 of 85) with videos related to
Sort By:
Page
of 9
Human Mutation
|
January 1, 1993
An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy
J S Harvey, P V Nelson, W F Carey, et al.
Human Mutation
|
January 1, 1992
An N-acetylgalactosamine-4-sulfatase mutation (delta G238) results in a severe Maroteaux-Lamy phenotype
T Litjens, C P Morris, E F Robertson, et al.
The Biochemical Journal
|
October 1, 1995
Expression, purification and characterization of recombinant human N-acetylgalactosamine-6-sulphatase
J Bielicki, M Fuller, X H Guo, et al.
Human Mutation
|
January 1, 1995
A splicing mutation (1898 + 1G-->T) in the CFTR gene causing cystic fibrosis
J Crawford, A Labrinidis, W F Carey, et al.
Human Mutation
|
January 1, 1995
Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications
H S Scott, S Bunge, A Gal, et al.
Human Mutation
|
January 1, 1992
alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype
H S Scott, T Litjens, P V Nelson, et al.
Human Genetics
|
March 1, 1992
Mucopolysaccharidosis type I (Hurler syndrome): linkage disequilibrium indicates the presence of a major allele
H S Scott, P V Nelson, A Cooper, et al.
European Psychiatry : the Journal of the Association of European Psychiatrists
|
July 10, 2010
Analysis of HapMap tag-SNPs in dysbindin (DTNBP1) reveals evidence of consistent association with schizophrenia
J Voisey, C D Swagell, I P Hughes, et al.
Journal of Molecular Biology
|
October 20, 1989
Avian keratin genes. I. A molecular analysis of the structure and expression of a group of feather keratin genes
R B Presland, K Gregg, P L Molloy, et al.
European Psychiatry : the Journal of the Association of European Psychiatrists
|
October 12, 2010
HapMap tag-SNP analysis confirms a role for COMT in schizophrenia risk and reveals a novel association
J Voisey, C D Swagell, I P Hughes, et al.
Page
of 9