Works matching IS 14345161 AND DT 2009 AND VI 54 AND IP 6
Results: 12
A novel mutation in NCF1 in an adult CGD patient with a liver abscess as first presentation.
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- Journal of Human Genetics, 2009, v. 54, n. 6, p. 313, doi. 10.1038/jhg.2009.24
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Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.
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- Journal of Human Genetics, 2009, v. 54, n. 6, p. 317, doi. 10.1038/jhg.2009.31
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Structural modeling of mutant α-glucosidases resulting in a processing/transport defect in Pompe disease.
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- Journal of Human Genetics, 2009, v. 54, n. 6, p. 324, doi. 10.1038/jhg.2009.32
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MEFV mutation carriage in Israeli Jewish individuals from ethnicities with low risk for familial Mediterranean fever.
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- Journal of Human Genetics, 2009, v. 54, n. 6, p. 369, doi. 10.1038/jhg.2009.33
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TC II deficiency: avoidance of false-negative molecular genetics by RNA-based investigations.
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- Journal of Human Genetics, 2009, v. 54, n. 6, p. 331, doi. 10.1038/jhg.2009.34
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A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin.
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- Journal of Human Genetics, 2009, v. 54, n. 6, p. 335, doi. 10.1038/jhg.2009.37
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Diverse genetic origin of Indian Muslims: evidence from autosomal STR loci.
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- Journal of Human Genetics, 2009, v. 54, n. 6, p. 340, doi. 10.1038/jhg.2009.38
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Revisiting the peopling of Japan: an admixture perspective.
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- Journal of Human Genetics, 2009, v. 54, n. 6, p. 349, doi. 10.1038/jhg.2009.39
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Molecular cloning of t(2;7)(p24.3;p14.2), a novel chromosomal translocation in myelodysplastic syndrome-derived acute myeloid leukemia.
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- Journal of Human Genetics, 2009, v. 54, n. 6, p. 355, doi. 10.1038/jhg.2009.40
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Frequencies of genotypes and alleles of the functional SNPs in CYP2C19 and CYP2E1 in mainland Chinese Kazakh, Uygur and Han populations.
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- Journal of Human Genetics, 2009, v. 54, n. 6, p. 372, doi. 10.1038/jhg.2009.41
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Arg347Cys polymorphism of α1A-adrenoceptor gene is associated with blood pressure response to nifedipine GITS in Chinese hypertensive patients.
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- Journal of Human Genetics, 2009, v. 54, n. 6, p. 360, doi. 10.1038/jhg.2009.42
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Mutations in the LMNA gene do not cause axonal CMT in Czech patients.
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- Journal of Human Genetics, 2009, v. 54, n. 6, p. 365, doi. 10.1038/jhg.2009.43
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- Article