Found: 14
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Biochemical and structural study on a S529V mutant acid α-glucosidase responsive to pharmacological chaperones.
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- Journal of Human Genetics, 2011, v. 56, n. 6, p. 440, doi. 10.1038/jhg.2011.36
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- Article
A Commentary on For what am I participating? The need for communication after receiving consent from biobanking project participants: experience in Japan.
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- Journal of Human Genetics, 2011, v. 56, n. 6, p. 405, doi. 10.1038/jhg.2011.47
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- Article
Functional polymorphism (5-HTTLPR) in the serotonin transporter gene is associated with subjective well-being: evidence from a US nationally representative sample.
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- Journal of Human Genetics, 2011, v. 56, n. 6, p. 456, doi. 10.1038/jhg.2011.39
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- Article
Identification of an autosomal dominant locus for intracranial aneurysm through a model-based family collection in a geographically limited area.
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- Journal of Human Genetics, 2011, v. 56, n. 6, p. 464, doi. 10.1038/jhg.2011.27
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- Article
Homozygous intronic mutation leading to inefficient transcription combined with a novel frameshift mutation in F13A1 gene causes FXIII deficiency.
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- Journal of Human Genetics, 2011, v. 56, n. 6, p. 460, doi. 10.1038/jhg.2011.41
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- Article
Fabry-database.org: database of the clinical phenotypes, genotypes and mutant α-galactosidase A structures in Fabry disease.
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- Journal of Human Genetics, 2011, v. 56, n. 6, p. 467, doi. 10.1038/jhg.2011.31
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- Article
Identification of a novel recombinant mutation in Korean patients with Gaucher disease using a long-range PCR approach.
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- Journal of Human Genetics, 2011, v. 56, n. 6, p. 469, doi. 10.1038/jhg.2011.37
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- Article
Evaluation of the association between polymorphisms at the DRD2 locus and stuttering.
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- Journal of Human Genetics, 2011, v. 56, n. 6, p. 472, doi. 10.1038/jhg.2011.29
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- Article
Common variants on 14q32 and 13q12 are associated with DLBCL susceptibility.
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- Journal of Human Genetics, 2011, v. 56, n. 6, p. 436, doi. 10.1038/jhg.2011.35
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- Article
Factors affecting the effective number of tests in genetic association studies: a comparative study of three PCA-based methods.
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- Journal of Human Genetics, 2011, v. 56, n. 6, p. 428, doi. 10.1038/jhg.2011.34
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- Article
Evaluation of next-generation sequencing software in mapping and assembly.
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- Journal of Human Genetics, 2011, v. 56, n. 6, p. 406, doi. 10.1038/jhg.2011.43
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- Article
HLA-C, CSTA and DS12346 susceptibility alleles confer over 100-fold increased risk of developing psoriasis: evidence of gene interaction.
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- Journal of Human Genetics, 2011, v. 56, n. 6, p. 423, doi. 10.1038/jhg.2011.33
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- Article
Analysis of CYP3A4 genetic polymorphisms in Han Chinese.
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- Journal of Human Genetics, 2011, v. 56, n. 6, p. 415, doi. 10.1038/jhg.2011.30
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- Article
Gene-gene interactions contribute to eye colour variation in humans.
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- Journal of Human Genetics, 2011, v. 56, n. 6, p. 447, doi. 10.1038/jhg.2011.38
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- Article