Works in Journal of Human Genetics, 2010, Vol 55, Issue 1
Results: 16
Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: rs17884724:A>C is associated with 7-alanine expansion.
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- Journal of Human Genetics, 2010, v. 55, n. 1, p. 4, doi. 10.1038/jhg.2009.109
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- Article
Identification of novel L2HGDH gene mutations and update of the pathological spectrum.
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- Journal of Human Genetics, 2010, v. 55, n. 1, p. 55, doi. 10.1038/jhg.2009.110
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- Article
Human chitotriosidase polymorphism is associated with human longevity in Mediterranean nonagenarians and centenarians.
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- Journal of Human Genetics, 2010, v. 55, n. 1, p. 8, doi. 10.1038/jhg.2009.111
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- Article
Common genetic variants in pre-microRNAs are associated with risk of coal workers' pneumoconiosis.
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- Journal of Human Genetics, 2010, v. 55, n. 1, p. 13, doi. 10.1038/jhg.2009.112
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- Article
Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations.
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- Journal of Human Genetics, 2010, v. 55, n. 1, p. 18, doi. 10.1038/jhg.2009.113
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- Article
Evidence for a founder mutation causing DFNA5 hearing loss in East Asians.
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- Journal of Human Genetics, 2010, v. 55, n. 1, p. 59, doi. 10.1038/jhg.2009.114
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- Article
Is CFTR 621+3 A>G a cystic fibrosis causing mutation?
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- Journal of Human Genetics, 2010, v. 55, n. 1, p. 23, doi. 10.1038/jhg.2009.115
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- Article
Identification of 15 loci influencing height in a Korean population.
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- Journal of Human Genetics, 2010, v. 55, n. 1, p. 27, doi. 10.1038/jhg.2009.116
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- Article
No influence of FAT polymorphisms in response to aripiprazole.
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- Journal of Human Genetics, 2010, v. 55, n. 1, p. 32, doi. 10.1038/jhg.2009.117
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- Article
Polymorphism located in TCRA locus confers susceptibility to essential hypersomnia with HLA-DRB1*1501-DQB1*0602 haplotype.
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- Journal of Human Genetics, 2010, v. 55, n. 1, p. 63, doi. 10.1038/jhg.2009.118
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- Article
A novel complex mutation in MSH2 contributes to both Muir-Torre and Lynch Syndrome.
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- Journal of Human Genetics, 2010, v. 55, n. 1, p. 37, doi. 10.1038/jhg.2009.119
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- Article
Mutation of ARHGAP9 in patients with coronary spastic angina.
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- Journal of Human Genetics, 2010, v. 55, n. 1, p. 42, doi. 10.1038/jhg.2009.120
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- Article
Examination of FMR1 transcript and protein levels among 74 premutation carriers.
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- Journal of Human Genetics, 2010, v. 55, n. 1, p. 66, doi. 10.1038/jhg.2009.121
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- Article
Association between ESR1 and ESR2 gene polymorphisms and hyperlipidemia in Chinese Han postmenopausal women.
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- Journal of Human Genetics, 2010, v. 55, n. 1, p. 50, doi. 10.1038/jhg.2009.122
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- Article
No influence of FAT polymorphisms in response to aripiprazole.
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- 2010
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- Correction Notice
Looking back, looking forward.
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- 2010
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- Publication type:
- Editorial