Works matching IS 10184813 AND DT 2009 AND VI 17 AND IP 3
Results: 21
Lactase persistence-related genetic variant: population substructure and health outcomes.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 3, p. 357, doi. 10.1038/ejhg.2008.156
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- Publication type:
- Article
Decreasing uptake of predictive testing for Huntington's disease in a German centre: 12 years' experience (1993–2004).
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 3, p. 295, doi. 10.1038/ejhg.2008.164
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- Publication type:
- Article
STAT3 single-nucleotide polymorphisms and STAT3 mutations associated with hyper-IgE syndrome are not responsible for increased serum IgE serum levels in asthma families.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 3, p. 352, doi. 10.1038/ejhg.2008.169
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- Publication type:
- Article
Missense mutations to the TSC1 gene cause tuberous sclerosis complex.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 3, p. 319, doi. 10.1038/ejhg.2008.170
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- Publication type:
- Article
Identification of a prostate cancer susceptibility gene on chromosome 5p13q12 associated with risk of both familial and sporadic disease.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 3, p. 368, doi. 10.1038/ejhg.2008.171
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- Publication type:
- Article
Variations in HSP70 genes associated with noise-induced hearing loss in two independent populations.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 3, p. 329, doi. 10.1038/ejhg.2008.172
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- Publication type:
- Article
Array-CGH fine mapping of minor and cryptic HR-CGH detected genomic imbalances in 80 out of 590 patients with abnormal development.
- Published in:
- 2009
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- Publication type:
- Correction Notice
Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 3, p. 344, doi. 10.1038/ejhg.2008.175
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- Publication type:
- Article
Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 3, p. 311, doi. 10.1038/ejhg.2008.178
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- Publication type:
- Article
Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 3, p. 378, doi. 10.1038/ejhg.2008.180
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- Publication type:
- Article
SNP frequency estimation using massively parallel sequencing of pooled DNA.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 3, p. 383, doi. 10.1038/ejhg.2008.182
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- Publication type:
- Article
A reliable cell-based assay for testing unclassified TSC2 gene variants.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 3, p. 301, doi. 10.1038/ejhg.2008.184
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- Publication type:
- Article
H1 haplotype of the MAPT gene is associated with lower regional gray matter volume in healthy carriers.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 3, p. 287, doi. 10.1038/ejhg.2008.185
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- Publication type:
- Article
A new mutation in the AFP gene responsible for a total absence of alpha feto-protein on second trimester maternal serum screening for Down syndrome.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 3, p. 387, doi. 10.1038/ejhg.2008.186
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- Publication type:
- Article
Fine-mapping and candidate gene investigation within the PARK10 locus.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 3, p. 336, doi. 10.1038/ejhg.2008.187
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- Publication type:
- Article
Sequence variant on 9p21 is associated with the presence of abdominal aortic aneurysm disease but does not have an impact on aneurysmal expansion.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 3, p. 391, doi. 10.1038/ejhg.2008.196
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- Publication type:
- Article
A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 3, p. 395, doi. 10.1038/ejhg.2008.200
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- Publication type:
- Article
Of wolves and men: the role of paternal child care in the evolution of genomic imprinting.
- Published in:
- 2009
- By:
- Publication type:
- Editorial
Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia.
- Published in:
- 2009
- By:
- Publication type:
- Correction Notice
Treacher Collins syndrome: etiology, pathogenesis and prevention.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 3, p. 275, doi. 10.1038/ejhg.2008.221
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- Publication type:
- Article
Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage?
- Published in:
- 2009
- By:
- Publication type:
- Letter