Works matching IS 14345161 AND DT 2014 AND VI 59 AND IP 6
Results: 13
Testing the key assumption of heritability estimates based on genome-wide genetic relatedness.
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- Journal of Human Genetics, 2014, v. 59, n. 6, p. 342, doi. 10.1038/jhg.2014.14
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The screening of the 3′UTR sequence of LRRK2 identified an association between the rs66737902 polymorphism and Parkinson's disease.
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- Journal of Human Genetics, 2014, v. 59, n. 6, p. 346, doi. 10.1038/jhg.2014.26
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Compilation of copy number variants identified in phenotypically normal and parous Japanese women.
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- Journal of Human Genetics, 2014, v. 59, n. 6, p. 326, doi. 10.1038/jhg.2014.27
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Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.
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- Journal of Human Genetics, 2014, v. 59, n. 6, p. 321, doi. 10.1038/jhg.2014.25
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Oculofaciocardiodental syndrome: novel BCOR mutations and expression in dental cells.
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- Journal of Human Genetics, 2014, v. 59, n. 6, p. 314, doi. 10.1038/jhg.2014.24
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The imprinted gene LRRTM1 mediates schizotypy and handedness in a nonclinical population.
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- Journal of Human Genetics, 2014, v. 59, n. 6, p. 332, doi. 10.1038/jhg.2014.30
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Association study of common polymorphisms in MSRA, TFAP2B, MC4R, NRXN3, PPARGC1A, TMEM18, SEC16B, HOXB5 and OLFM4 genes with obesity-related traits among Portuguese children.
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- Journal of Human Genetics, 2014, v. 59, n. 6, p. 307, doi. 10.1038/jhg.2014.23
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Limited evidence for adaptive evolution and functional effect of allelic variation at rs702424 in the promoter of the TAS2R16 bitter taste receptor gene in Africa.
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- Journal of Human Genetics, 2014, v. 59, n. 6, p. 349, doi. 10.1038/jhg.2014.29
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Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities.
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- Journal of Human Genetics, 2014, v. 59, n. 6, p. 353, doi. 10.1038/jhg.2014.34
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BCOR mutations and unstoppable root growth: a commentary on oculofaciocardiodental syndrome: novel BCOR mutations and expression in dental cells.
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- Journal of Human Genetics, 2014, v. 59, n. 6, p. 297, doi. 10.1038/jhg.2014.31
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An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities.
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- Journal of Human Genetics, 2014, v. 59, n. 6, p. 300, doi. 10.1038/jhg.2014.21
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Very early-onset inflammatory bowel disease (IBD) in infancy is a different disease entity from adult-onset IBD; one form of interleukin-10 receptor mutations.
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- Journal of Human Genetics, 2014, v. 59, n. 6, p. 337, doi. 10.1038/jhg.2014.32
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- Article
Testing the key assumption of heritability estimates based on genome-wide genetic relatedness.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 6, p. 357, doi. 10.1038/jhg.2014.33
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- Article