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Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies.
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- Journal of Human Genetics, 2012, v. 57, n. 1, p. 70, doi. 10.1038/jhg.2011.128
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- Article
Functional analysis of APOE locus genetic variation implicates regional enhancers in the regulation of both TOMM40 and APOE.
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- Journal of Human Genetics, 2012, v. 57, n. 1, p. 18, doi. 10.1038/jhg.2011.123
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- Article
Functional single-nucleotide polymorphism of epidermal growth factor is associated with the development of Barrett's esophagus and esophageal adenocarcinoma.
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- Journal of Human Genetics, 2012, v. 57, n. 1, p. 26, doi. 10.1038/jhg.2011.124
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- Article
Implications of gene copy-number variation in health and diseases.
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- Journal of Human Genetics, 2012, v. 57, n. 1, p. 6, doi. 10.1038/jhg.2011.108
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- Article
Single nucleotide polymorphisms in JAZF1 and BCL11A gene are nominally associated with type 2 diabetes in African-American families from the GENNID study.
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- Journal of Human Genetics, 2012, v. 57, n. 1, p. 57, doi. 10.1038/jhg.2011.133
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- Article
A commentary on A multiplex SNP assay for the dissection of human Y-chromosome haplogroup O representing the major paternal lineage in East and Southeast Asia.
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- Journal of Human Genetics, 2012, v. 57, n. 1, p. 5, doi. 10.1038/jhg.2011.136
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- Article
Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.
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- Journal of Human Genetics, 2012, v. 57, n. 1, p. 52, doi. 10.1038/jhg.2011.130
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- Article
Genome-wide association study of copy number variation identified gremlin1 as a candidate gene for lean body mass.
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- Journal of Human Genetics, 2012, v. 57, n. 1, p. 33, doi. 10.1038/jhg.2011.125
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- Article
A Family-based Association Study of DIO2 and children mental retardation in the Qinba region of China.
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- Journal of Human Genetics, 2012, v. 57, n. 1, p. 14, doi. 10.1038/jhg.2011.121
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- Article
Commentary on Functional analysis of APOE Locus genetic variation implicates regional enhancers in the regulation of both TOMM40 and APOE.
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- Journal of Human Genetics, 2012, v. 57, n. 1, p. 3, doi. 10.1038/jhg.2011.135
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- Article
Uneventful clinical courses of Korean patients with methylcrotonylglycinuria and their common mutations.
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- Journal of Human Genetics, 2012, v. 57, n. 1, p. 62, doi. 10.1038/jhg.2011.116
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- Article
Genetic variations in the CYP17A1 and NT5C2 genes are associated with a reduction in visceral and subcutaneous fat areas in Japanese women.
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- Journal of Human Genetics, 2012, v. 57, n. 1, p. 46, doi. 10.1038/jhg.2011.127
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- Article
New Year's Greetings.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 1, p. 1, doi. 10.1038/jhg.2011.141
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- Article
Tumor suppressive microRNA-133a regulates novel molecular networks in lung squamous cell carcinoma.
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- Journal of Human Genetics, 2012, v. 57, n. 1, p. 38, doi. 10.1038/jhg.2011.126
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- Publication type:
- Article
A multiplex SNP assay for the dissection of human Y-chromosome haplogroup O representing the major paternal lineage in East and Southeast Asia.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 1, p. 65, doi. 10.1038/jhg.2011.120
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- Publication type:
- Article
Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation.
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- Journal of Human Genetics, 2012, v. 57, n. 1, p. 73, doi. 10.1038/jhg.2011.131
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- Article