Works matching IS 1434-5161 AND VI 60 AND IP 9 AND DT 2015
Results: 15
Interpretation of sequence variants of the FBN1 gene: analog or digital? A commentary on decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants.
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- Journal of Human Genetics, 2015, v. 60, n. 9, p. 465, doi. 10.1038/jhg.2015.95
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Disease susceptibility genes shared by primary biliary cirrhosis and Crohn's disease in the Japanese population.
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- Journal of Human Genetics, 2015, v. 60, n. 9, p. 525, doi. 10.1038/jhg.2015.59
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Evaluation of PARKIN gene variants in West Bengal Parkinson's disease patients.
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- Journal of Human Genetics, 2015, v. 60, n. 9, p. 485, doi. 10.1038/jhg.2015.49
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Genetic analysis of common variants in the HDAC2 gene with schizophrenia susceptibility in Han Chinese.
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- Journal of Human Genetics, 2015, v. 60, n. 9, p. 479, doi. 10.1038/jhg.2015.66
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Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita.
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- Journal of Human Genetics, 2015, v. 60, n. 9, p. 509, doi. 10.1038/jhg.2015.57
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Admixture mapping of genetic variants for uterine fibroids.
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- Journal of Human Genetics, 2015, v. 60, n. 9, p. 533, doi. 10.1038/jhg.2015.60
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Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.
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- Journal of Human Genetics, 2015, v. 60, n. 9, p. 501, doi. 10.1038/jhg.2015.54
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Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites.
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- Journal of Human Genetics, 2015, v. 60, n. 9, p. 467, doi. 10.1038/jhg.2015.56
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A stepwise strategy for rapid and cost-effective RB1 screening in Indian retinoblastoma patients.
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- Journal of Human Genetics, 2015, v. 60, n. 9, p. 547, doi. 10.1038/jhg.2015.62
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Chaperone therapy for Krabbe disease: potential for late-onset GALC mutations.
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- Journal of Human Genetics, 2015, v. 60, n. 9, p. 539, doi. 10.1038/jhg.2015.61
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mtDNA diversity of the Zapotec in Mexico suggests a population decline long before the first contact with Europeans.
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- Journal of Human Genetics, 2015, v. 60, n. 9, p. 557, doi. 10.1038/jhg.2015.55
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Genotype-phenotype relationship in Japanese patients with congenital central hypoventilation syndrome.
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- Journal of Human Genetics, 2015, v. 60, n. 9, p. 473, doi. 10.1038/jhg.2015.65
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Awareness, attitudes and perspectives of direct-to-consumer genetic testing in Greece: a survey of potential consumers.
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- Journal of Human Genetics, 2015, v. 60, n. 9, p. 515, doi. 10.1038/jhg.2015.58
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Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature.
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- Journal of Human Genetics, 2015, v. 60, n. 9, p. 553, doi. 10.1038/jhg.2015.53
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Genome-wide signatures of male-mediated migration shaping the Indian gene pool.
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- Journal of Human Genetics, 2015, v. 60, n. 9, p. 493, doi. 10.1038/jhg.2015.51
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