Works matching IS 14345161 AND DT 2012 AND VI 57 AND IP 1
Results: 16
Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 1, p. 70, doi. 10.1038/jhg.2011.128
- By:
- Publication type:
- Article
Functional analysis of APOE locus genetic variation implicates regional enhancers in the regulation of both TOMM40 and APOE.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 1, p. 18, doi. 10.1038/jhg.2011.123
- By:
- Publication type:
- Article
Functional single-nucleotide polymorphism of epidermal growth factor is associated with the development of Barrett's esophagus and esophageal adenocarcinoma.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 1, p. 26, doi. 10.1038/jhg.2011.124
- By:
- Publication type:
- Article
Single nucleotide polymorphisms in JAZF1 and BCL11A gene are nominally associated with type 2 diabetes in African-American families from the GENNID study.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 1, p. 57, doi. 10.1038/jhg.2011.133
- By:
- Publication type:
- Article
Implications of gene copy-number variation in health and diseases.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 1, p. 6, doi. 10.1038/jhg.2011.108
- By:
- Publication type:
- Article
Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 1, p. 52, doi. 10.1038/jhg.2011.130
- By:
- Publication type:
- Article
Genome-wide association study of copy number variation identified gremlin1 as a candidate gene for lean body mass.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 1, p. 33, doi. 10.1038/jhg.2011.125
- By:
- Publication type:
- Article
A Family-based Association Study of DIO2 and children mental retardation in the Qinba region of China.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 1, p. 14, doi. 10.1038/jhg.2011.121
- By:
- Publication type:
- Article
Commentary on Functional analysis of APOE Locus genetic variation implicates regional enhancers in the regulation of both TOMM40 and APOE.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 1, p. 3, doi. 10.1038/jhg.2011.135
- By:
- Publication type:
- Article
Uneventful clinical courses of Korean patients with methylcrotonylglycinuria and their common mutations.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 1, p. 62, doi. 10.1038/jhg.2011.116
- By:
- Publication type:
- Article
Genetic variations in the CYP17A1 and NT5C2 genes are associated with a reduction in visceral and subcutaneous fat areas in Japanese women.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 1, p. 46, doi. 10.1038/jhg.2011.127
- By:
- Publication type:
- Article
New Year's Greetings.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 1, p. 1, doi. 10.1038/jhg.2011.141
- By:
- Publication type:
- Article
Tumor suppressive microRNA-133a regulates novel molecular networks in lung squamous cell carcinoma.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 1, p. 38, doi. 10.1038/jhg.2011.126
- By:
- 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
- By:
- Publication type:
- 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.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 1, p. 5, doi. 10.1038/jhg.2011.136
- By:
- Publication type:
- Article
Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 1, p. 73, doi. 10.1038/jhg.2011.131
- By:
- Publication type:
- Article