Works matching IS 10184813 AND DT 2008 AND VI 16 AND IP 10
Results: 20
Northwest Siberian Khanty and Mansi in the junction of West and East Eurasian gene pools as revealed by uniparental markers.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1254, doi. 10.1038/ejhg.2008.101
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- Publication type:
- Article
Gene–environment interactions for complex traits: definitions, methodological requirements and challenges.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1164, doi. 10.1038/ejhg.2008.106
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- Publication type:
- Article
Victor McKusick, 1921–2008: the founder of medical genetics as we know it.
- Published in:
- 2008
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- Publication type:
- Obituary
A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1265, doi. 10.1038/ejhg.2008.65
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- Publication type:
- Article
Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1187, doi. 10.1038/ejhg.2008.71
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- Publication type:
- Article
The effect of pedigree structure on detection of deletions and other null alleles.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1225, doi. 10.1038/ejhg.2008.75
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- Publication type:
- Article
Confirmation of the genetic association between the U2AF homology motif (UHM) kinase 1 (UHMK1) gene and schizophrenia on chromosome 1q23.3.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1275, doi. 10.1038/ejhg.2008.76
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- Publication type:
- Article
A cAMP-specific phosphodiesterase (PDE8B) that is mutated in adrenal hyperplasia is expressed widely in human and mouse tissues: a novel PDE8B isoform in human adrenal cortex.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1245, doi. 10.1038/ejhg.2008.85
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- Publication type:
- Article
Frequent mutations in the 3′-untranslated region of IFNGR1 lack functional impairment in microsatellite-unstable colorectal tumours.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1235, doi. 10.1038/ejhg.2008.81
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- Publication type:
- Article
An Internet-based external quality assessment in cytogenetics that audits a laboratory's analytical and interpretative performance.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1217, doi. 10.1038/ejhg.2008.82
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- Publication type:
- Article
Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1240, doi. 10.1038/ejhg.2008.83
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- Publication type:
- Article
Family communication between children and their parents about inherited genetic conditions: a meta-synthesis of the research.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1193, doi. 10.1038/ejhg.2008.84
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- Publication type:
- Article
The polymorphisms of protein-tyrosine phosphatase receptor-type delta gene and its association with pediatric asthma in the Taiwanese population.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1283, doi. 10.1038/ejhg.2008.79
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- Publication type:
- Article
A missense mutation in ALDH18A1, encoding Δ<sup>1</sup>-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1176, doi. 10.1038/ejhg.2008.91
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- Publication type:
- Article
Uptake of genetic counselling and predictive DNA testing in hypertrophic cardiomyopathy.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1201, doi. 10.1038/ejhg.2008.92
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- Publication type:
- Article
Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1208, doi. 10.1038/ejhg.2008.93
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- Publication type:
- Article
Is paternal age playing a role in the changing prevalence of Klinefelter syndrome?
- Published in:
- 2008
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- Publication type:
- Letter
Hypotheses in genome-wide association scans.
- Published in:
- 2008
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- Publication type:
- Letter
Reply to Nothnagel et al.
- Published in:
- 2008
- By:
- Publication type:
- Letter
Reply to Herlihy and Halliday.
- Published in:
- 2008
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- Publication type:
- Letter