Found: 22
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Chromosome 17q21 SNP and severe asthma.
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- Journal of Human Genetics, 2011, v. 56, n. 1, p. 97, doi. 10.1038/jhg.2010.134
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- Article
A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.
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- Journal of Human Genetics, 2011, v. 56, n. 1, p. 34, doi. 10.1038/jhg.2010.132
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- Article
Androgenetic/biparental mosaicism in a girl with Beckwith-Wiedemann syndrome-like and upd(14)pat-like phenotypes.
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- Journal of Human Genetics, 2011, v. 56, n. 1, p. 91, doi. 10.1038/jhg.2010.142
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- Article
Association of serotonin transporter gene variation with smoking, chronic obstructive pulmonary disease, and its depressive symptoms.
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- Journal of Human Genetics, 2011, v. 56, n. 1, p. 41, doi. 10.1038/jhg.2010.133
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- Article
SNPs on chromosome 5p15.3 associated with myocardial infarction in Japanese population.
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- Journal of Human Genetics, 2011, v. 56, n. 1, p. 47, doi. 10.1038/jhg.2010.141
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- Article
In the new year.
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- Journal of Human Genetics, 2011, v. 56, n. 1, p. 1, doi. 10.1038/jhg.2010.158
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- Article
Y-chromosome R-M343 African lineages and sickle cell disease reveal structured assimilation in Lebanon.
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- Journal of Human Genetics, 2011, v. 56, n. 1, p. 29, doi. 10.1038/jhg.2010.131
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- Article
Low prevalence of classical galactosemia in Korean population.
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- Journal of Human Genetics, 2011, v. 56, n. 1, p. 94, doi. 10.1038/jhg.2010.152
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- Article
Genotype-phenotype associations and human eye color.
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- Journal of Human Genetics, 2011, v. 56, n. 1, p. 5, doi. 10.1038/jhg.2010.126
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- Article
Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China.
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- Journal of Human Genetics, 2011, v. 56, n. 1, p. 64, doi. 10.1038/jhg.2010.147
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- Article
A new c.1621 C>G, p.R541G lamin A/C mutation in a family with DCM and regional wall motion abnormalities (akinesis/dyskinesis): genotype-phenotype correlation.
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- Journal of Human Genetics, 2011, v. 56, n. 1, p. 83, doi. 10.1038/jhg.2010.137
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- Article
Evidence for epistatic interactions in antiepileptic drug resistance.
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- Journal of Human Genetics, 2011, v. 56, n. 1, p. 71, doi. 10.1038/jhg.2010.151
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- Article
The ENPP1 K121Q polymorphism is not associated with type 2 diabetes or obesity in the Chinese Han population.
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- Journal of Human Genetics, 2011, v. 56, n. 1, p. 12, doi. 10.1038/jhg.2010.124
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- Article
Cyclin D1 rare variants in UK multiple adenoma and early-onset colorectal cancer patients.
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- Journal of Human Genetics, 2011, v. 56, n. 1, p. 58, doi. 10.1038/jhg.2010.144
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- Article
Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome.
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- Journal of Human Genetics, 2011, v. 56, n. 1, p. 8, doi. 10.1038/jhg.2010.121
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- Article
Characterization of a mutation commonly associated with persistent stuttering: evidence for a founder mutation.
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- Journal of Human Genetics, 2011, v. 56, n. 1, p. 80, doi. 10.1038/jhg.2010.125
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- Article
An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brain.
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- Journal of Human Genetics, 2011, v. 56, n. 1, p. 52, doi. 10.1038/jhg.2010.143
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- Article
Four sisters compound heterozygotes for the pre- and full mutation in fragile X syndrome and a complete inactivation of X-functional chromosome: implications for genetic counseling.
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- Journal of Human Genetics, 2011, v. 56, n. 1, p. 87, doi. 10.1038/jhg.2010.140
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- Article
Methylenetetrahydrofolate reductase gene polymorphisms and cerebral palsy in Chinese infants.
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- Journal of Human Genetics, 2011, v. 56, n. 1, p. 17, doi. 10.1038/jhg.2010.127
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Commentary on 'Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome'.
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- Journal of Human Genetics, 2011, v. 56, n. 1, p. 4, doi. 10.1038/jhg.2010.145
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- Article
Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene.
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- Journal of Human Genetics, 2011, v. 56, n. 1, p. 22, doi. 10.1038/jhg.2010.128
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- Article
A Japanese trichothiodystrophy patient with XPD mutations.
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- Journal of Human Genetics, 2011, v. 56, n. 1, p. 77, doi. 10.1038/jhg.2010.123
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- Article