Works matching IS 14345161 AND DT 2015 AND VI 60 AND IP 10
Results: 16
Genetic mutations in human rectal cancers detected by targeted sequencing.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 10, p. 589, doi. 10.1038/jhg.2015.71
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- Article
The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.
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- Journal of Human Genetics, 2015, v. 60, n. 10, p. 651, doi. 10.1038/jhg.2015.86
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- Article
Genome-wide association study of IgA nephropathy using 23 465 microsatellite markers in a Japanese population.
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- Journal of Human Genetics, 2015, v. 60, n. 10, p. 573, doi. 10.1038/jhg.2015.88
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- Article
Spina bifida in fetus is associated with an altered pattern of DNA methylation in placenta.
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- Journal of Human Genetics, 2015, v. 60, n. 10, p. 605, doi. 10.1038/jhg.2015.80
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- Article
Unique characteristics of the Ainu population in Northern Japan.
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- Journal of Human Genetics, 2015, v. 60, n. 10, p. 565, doi. 10.1038/jhg.2015.79
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- Article
Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 10, p. 625, doi. 10.1038/jhg.2015.92
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- Article
Frequent genomic rearrangements of BRCA1 associated protein-1 (BAP1) gene in Japanese malignant mesothelioma-characterization of deletions at exon level.
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- Journal of Human Genetics, 2015, v. 60, n. 10, p. 647, doi. 10.1038/jhg.2015.91
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- Article
Association of common variants in H2AFZ gene with schizophrenia and cognitive function in patients with schizophrenia.
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- Journal of Human Genetics, 2015, v. 60, n. 10, p. 619, doi. 10.1038/jhg.2015.89
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- Article
Japonica array: improved genotype imputation by designing a population-specific SNP array with 1070 Japanese individuals.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 10, p. 581, doi. 10.1038/jhg.2015.68
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- Article
GIGYF2 mutation in late-onset Parkinson's disease with cognitive impairment.
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- Journal of Human Genetics, 2015, v. 60, n. 10, p. 637, doi. 10.1038/jhg.2015.69
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- Article
Germline mutations causing familial lung cancer.
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- Journal of Human Genetics, 2015, v. 60, n. 10, p. 597, doi. 10.1038/jhg.2015.75
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- Article
Screening of sarcomere gene mutations in young athletes with abnormal findings in electrocardiography: identification of a MYH7 mutation and MYBPC3 mutations.
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- Journal of Human Genetics, 2015, v. 60, n. 10, p. 641, doi. 10.1038/jhg.2015.81
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- Article
Calcification of joints and arteries: second report with novel NT5E mutations and expansion of the phenotype.
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- Journal of Human Genetics, 2015, v. 60, n. 10, p. 561, doi. 10.1038/jhg.2015.85
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- Article
FALS with FUS mutation in Japan, with early onset, rapid progress and basophilic inclusion.
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- Journal of Human Genetics, 2015, v. 60, n. 10, p. 653, doi. 10.1038/jhg.2015.93
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- Article
Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population.
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- Journal of Human Genetics, 2015, v. 60, n. 10, p. 613, doi. 10.1038/jhg.2015.82
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- Article
Novel compound heterozygous LIAS mutations cause glycine encephalopathy.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 10, p. 631, doi. 10.1038/jhg.2015.72
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- Article