Works matching IS 14345161 AND DT 2011 AND VI 56 AND IP 9
Results: 12
Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect.
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- Journal of Human Genetics, 2011, v. 56, n. 9, p. 631, doi. 10.1038/jhg.2011.72
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Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation.
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- Journal of Human Genetics, 2011, v. 56, n. 9, p. 660, doi. 10.1038/jhg.2011.76
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Association of a synonymous GAT3 polymorphism with antiepileptic drug pharmacoresistance.
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- Journal of Human Genetics, 2011, v. 56, n. 9, p. 640, doi. 10.1038/jhg.2011.73
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p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma.
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- Journal of Human Genetics, 2011, v. 56, n. 9, p. 685, doi. 10.1038/jhg.2011.82
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Different contributions of ancient mitochondrial and Y-chromosomal lineages in 'Karretjie people' of the Great Karoo in South Africa.
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- Journal of Human Genetics, 2011, v. 56, n. 9, p. 623, doi. 10.1038/jhg.2011.71
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Genetic variation in phosphodiesterase (PDE) 7B in chronic lymphocytic leukemia: overview of genetic variants of cyclic nucleotide PDEs in human disease.
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- Journal of Human Genetics, 2011, v. 56, n. 9, p. 676, doi. 10.1038/jhg.2011.80
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Comprehensive mutational analysis of LRRK2 reveals variants supporting association with autosomal dominant Parkinson's disease.
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- Journal of Human Genetics, 2011, v. 56, n. 9, p. 671, doi. 10.1038/jhg.2011.79
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Screening of genetic variations of SLC15A2, SLC22A1, SLC22A2 and SLC22A6 genes.
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- Journal of Human Genetics, 2011, v. 56, n. 9, p. 666, doi. 10.1038/jhg.2011.77
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Evaluation of next-generation sequencing software in mapping and assembly.
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- Journal of Human Genetics, 2011, v. 56, n. 9, p. 687, doi. 10.1038/jhg.2011.91
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Genetic association analysis of TAP1 and TAP2 polymorphisms with aspirin exacerbated respiratory disease and its FEV1 decline.
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- Journal of Human Genetics, 2011, v. 56, n. 9, p. 652, doi. 10.1038/jhg.2011.75
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Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population.
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- Journal of Human Genetics, 2011, v. 56, n. 9, p. 682, doi. 10.1038/jhg.2011.78
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Association of variations in the FTO, SCG3 and MTMR9 genes with metabolic syndrome in a Japanese population.
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- Journal of Human Genetics, 2011, v. 56, n. 9, p. 647, doi. 10.1038/jhg.2011.74
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- Article