Works matching IS 14345161 AND DT 2014 AND VI 59 AND IP 9
Results: 10
Exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome.
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- Journal of Human Genetics, 2014, v. 59, n. 9, p. 536, doi. 10.1038/jhg.2014.60
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- Article
A new acro-osteolysis syndrome caused by duplications including PTHLH.
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- Journal of Human Genetics, 2014, v. 59, n. 9, p. 484, doi. 10.1038/jhg.2014.58
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- Article
Isolation, contact and social behavior shaped genetic diversity in West Timor.
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- Journal of Human Genetics, 2014, v. 59, n. 9, p. 494, doi. 10.1038/jhg.2014.62
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- Article
A commentary on exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome.
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- Journal of Human Genetics, 2014, v. 59, n. 9, p. 479, doi. 10.1038/jhg.2014.68
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- Article
Glutathione-S-transferase polymorphism and acute lymphoblastic leukemia (ALL) in north Indian children: a case-control study and meta-analysis.
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- Journal of Human Genetics, 2014, v. 59, n. 9, p. 529, doi. 10.1038/jhg.2014.66
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- Article
Geography has more influence than language on maternal genetic structure of various northeastern Thai ethnicities.
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- Journal of Human Genetics, 2014, v. 59, n. 9, p. 512, doi. 10.1038/jhg.2014.64
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- Article
Influence of MILR1 promoter polymorphism on expression levels and the phenotype of atopy.
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- Journal of Human Genetics, 2014, v. 59, n. 9, p. 480, doi. 10.1038/jhg.2014.57
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- Article
Alterations to DNA methylation and expression of CXCL14 are associated with suboptimal birth outcomes.
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- Journal of Human Genetics, 2014, v. 59, n. 9, p. 504, doi. 10.1038/jhg.2014.63
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- Article
The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: a totally different mutation profile with the lack of frequent mutations found in Caucasian patients.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 9, p. 521, doi. 10.1038/jhg.2014.65
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- Article
Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel-Lindau (VHL) disease.
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- Journal of Human Genetics, 2014, v. 59, n. 9, p. 488, doi. 10.1038/jhg.2014.61
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- Article