Works matching IS 10184813 AND DT 2009 AND VI 17 AND IP 8
Results: 17
Chromosome 13q13–q14 locus overlaps mood and psychotic disorders: the relevance for redefining phenotype.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 8, p. 1034, doi. 10.1038/ejhg.2008.268
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- Article
Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development.
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- European Journal of Human Genetics, 2009, v. 17, n. 8, p. 1010, doi. 10.1038/ejhg.2008.269
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- Article
Two British women studies replicated the association between the Val66Met polymorphism in the brain-derived neurotrophic factor (BDNF) and BMI.
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- European Journal of Human Genetics, 2009, v. 17, n. 8, p. 1050, doi. 10.1038/ejhg.2008.272
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- Article
A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 8, p. 1076, doi. 10.1038/ejhg.2008.273
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- Article
Improving pharmacovigilance in Europe: TPMT genotyping and phenotyping in the UK and Spain.
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- European Journal of Human Genetics, 2009, v. 17, n. 8, p. 991, doi. 10.1038/ejhg.2009.10
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- Article
4q32–q35 and 6q16–q22 are valuable candidate regions for split hand/foot malformation.
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- European Journal of Human Genetics, 2009, v. 17, n. 8, p. 1086, doi. 10.1038/ejhg.2009.11
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- Article
A novel mutation in the mitochondrial tRNA<sup>Pro</sup> gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency.
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- European Journal of Human Genetics, 2009, v. 17, n. 8, p. 1092, doi. 10.1038/ejhg.2009.12
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- Article
Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosis.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 8, p. 1019, doi. 10.1038/ejhg.2009.13
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- Article
Preconceptional ancestry-based carrier couple screening for cystic fibrosis and haemoglobinopathies: what determines the intention to participate or not and actual participation?
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- European Journal of Human Genetics, 2009, v. 17, n. 8, p. 999, doi. 10.1038/ejhg.2009.1
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- Article
Characterization of two ectrodactyly-associated translocation breakpoints separated by 2.5 Mb on chromosome 2q14.1–q14.2.
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- European Journal of Human Genetics, 2009, v. 17, n. 8, p. 1024, doi. 10.1038/ejhg.2009.2
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- Article
Integrative genomics, personal-genome tests and personalized healthcare: the future is being built today.
- Published in:
- 2009
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- Publication type:
- Opinion
Novel promoter and exon mutations of the BMPR2 gene in Chinese patients with pulmonary arterial hypertension.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 8, p. 1063, doi. 10.1038/ejhg.2009.3
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- Article
Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study.
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- European Journal of Human Genetics, 2009, v. 17, n. 8, p. 1056, doi. 10.1038/ejhg.2009.4
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- Article
Predicting human height by Victorian and genomic methods.
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- European Journal of Human Genetics, 2009, v. 17, n. 8, p. 1070, doi. 10.1038/ejhg.2009.5
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- Article
Joint analysis of tightly linked SNPs in screening step of genome-wide association studies leads to increased power.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 8, p. 1043, doi. 10.1038/ejhg.2009.7
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- Article
Allelic heterogeneity of G6PD deficiency in West Africa and severe malaria susceptibility.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 8, p. 1080, doi. 10.1038/ejhg.2009.8
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- Article
Biological sample collections from minors for genetic research: a systematic review of guidelines and position papers.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 8, p. 979, doi. 10.1038/ejhg.2009.9
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- Article