Works matching IS 14345161 AND DT 2014 AND VI 59 AND IP 5
Results: 11
Allele frequency of a 24 bp duplication in exon 10 of the CHIT1 gene in the general Korean population and in Korean patients with Gaucher disease.
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- Journal of Human Genetics, 2014, v. 59, n. 5, p. 276, doi. 10.1038/jhg.2014.16
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Quantifying the uncertainty in heritability.
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- Journal of Human Genetics, 2014, v. 59, n. 5, p. 269, doi. 10.1038/jhg.2014.15
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Genome-wide analysis of CNV (copy number variation) and their associations with narcolepsy in a Japanese population.
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- Journal of Human Genetics, 2014, v. 59, n. 5, p. 235, doi. 10.1038/jhg.2014.13
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Signature of backward replication slippage at the copy number variation junction.
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- Journal of Human Genetics, 2014, v. 59, n. 5, p. 247, doi. 10.1038/jhg.2014.20
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Pseudogenization of testis-specific Lfg5 predates human/Neanderthal divergence.
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- Journal of Human Genetics, 2014, v. 59, n. 5, p. 288, doi. 10.1038/jhg.2014.6
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Riboflavin-responsive multiple Acyl-CoA dehydrogenation deficiency in 13 cases, and a literature review in mainland Chinese patients.
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- Journal of Human Genetics, 2014, v. 59, n. 5, p. 256, doi. 10.1038/jhg.2014.10
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De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain.
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- Journal of Human Genetics, 2014, v. 59, n. 5, p. 292, doi. 10.1038/jhg.2014.18
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Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study.
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- Journal of Human Genetics, 2014, v. 59, n. 5, p. 262, doi. 10.1038/jhg.2014.12
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Targeted next-generation sequencing and fine linkage disequilibrium mapping reveals association of PNPLA3 and PARVB with the severity of nonalcoholic fatty liver disease.
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- Journal of Human Genetics, 2014, v. 59, n. 5, p. 241, doi. 10.1038/jhg.2014.17
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Single human papillomavirus 16 or 52 infection and later cytological findings in Japanese women with NILM or ASC-US.
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- Journal of Human Genetics, 2014, v. 59, n. 5, p. 251, doi. 10.1038/jhg.2014.9
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Polymorphisms in methylenetetrahydrofolate reductase gene and risk of non-Hodgkin lymphoma in a multi-ethnic population.
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- Journal of Human Genetics, 2014, v. 59, n. 5, p. 280, doi. 10.1038/jhg.2014.19
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- Article