Works matching IS 14345161 AND DT 2013 AND VI 58 AND IP 5
Results: 10
Functional characterization of seven single-nucleotide polymorphisms of the steroid sulfatase gene found in a Japanese population.
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- Journal of Human Genetics, 2013, v. 58, n. 5, p. 267, doi. 10.1038/jhg.2013.12
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- Article
Molecular analysis of the genes causing recessive demyelinating Charcot-Marie-Tooth disease in Japan.
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- Journal of Human Genetics, 2013, v. 58, n. 5, p. 273, doi. 10.1038/jhg.2013.15
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- Article
Copy number variation of the antimicrobial-gene, defensin beta 4, is associated with susceptibility to cervical cancer.
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- Journal of Human Genetics, 2013, v. 58, n. 5, p. 250, doi. 10.1038/jhg.2013.7
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- Article
Current status of hepatic glycogen storage disease in Japan: clinical manifestations, treatments and long-term outcomes.
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- Journal of Human Genetics, 2013, v. 58, n. 5, p. 285, doi. 10.1038/jhg.2013.17
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- Article
Association of CFTR gene variants with nontuberculous mycobacterial lung disease in a Korean population with a low prevalence of cystic fibrosis.
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- Journal of Human Genetics, 2013, v. 58, n. 5, p. 298, doi. 10.1038/jhg.2013.19
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- Article
DNA methylation of human endogenous retrovirus in systemic lupus erythematosus.
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- Journal of Human Genetics, 2013, v. 58, n. 5, p. 241, doi. 10.1038/jhg.2013.6
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- Article
Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain.
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- Journal of Human Genetics, 2013, v. 58, n. 5, p. 279, doi. 10.1038/jhg.2013.16
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- Article
Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure.
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- Journal of Human Genetics, 2013, v. 58, n. 5, p. 259, doi. 10.1038/jhg.2013.9
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- Article
Genetic effects have a dominant role on poor responses to infant vaccination to hepatitis B virus.
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- Journal of Human Genetics, 2013, v. 58, n. 5, p. 293, doi. 10.1038/jhg.2013.18
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- Article
A founder haplotype of APOE-Sendai mutation associated with lipoprotein glomerulopathy.
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- Journal of Human Genetics, 2013, v. 58, n. 5, p. 254, doi. 10.1038/jhg.2013.8
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- Article