Works matching IS 10184813 AND DT 2009 AND VI 17 AND IP 2
Results: 20
Natural selection and the molecular basis of electrophoretic variation at the coagulation F13B locus.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 2, p. 219, doi. 10.1038/ejhg.2008.137
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- Publication type:
- Article
Long-term outcome of presymptomatic testing in Huntington disease.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 2, p. 165, doi. 10.1038/ejhg.2008.146
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- Publication type:
- Article
Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 2, p. 187, doi. 10.1038/ejhg.2008.147
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- Publication type:
- Article
The DLX1and DLX2 genes and susceptibility to autism spectrum disorders.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 2, p. 228, doi. 10.1038/ejhg.2008.148
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- Publication type:
- Article
Genomic screening identifies novel linkages and provides further evidence for a role of MYH9 in nonsyndromic cleft lip and palate.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 2, p. 195, doi. 10.1038/ejhg.2008.149
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- Publication type:
- Article
A novel missense RAG-1 mutation results in T<sup>−</sup>B<sup>−</sup>NK<sup>+</sup> SCID in Athabascan-speaking Dine Indians from the Canadian Northwest Territories.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 2, p. 205, doi. 10.1038/ejhg.2008.150
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- Publication type:
- Article
A mitochondrial mutation A4401G is involved in the pathogenesis of left ventricular hypertrophy in Chinese hypertensives.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 2, p. 172, doi. 10.1038/ejhg.2008.151
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- Publication type:
- Article
Genome-wide linkage screen for stature and body mass index in 3.032 families: evidence for sex- and population-specific genetic effects.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 2, p. 258, doi. 10.1038/ejhg.2008.152
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- Publication type:
- Article
Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 2, p. 159, doi. 10.1038/ejhg.2008.153
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- Publication type:
- Article
The mutation spectrum in RECQL4 diseases.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 2, p. 151, doi. 10.1038/ejhg.2008.154
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- Publication type:
- Article
The E-cadherin (CDH1) −160 C/A polymorphism and prostate cancer risk: a meta-analysis.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 2, p. 244, doi. 10.1038/ejhg.2008.157
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- Publication type:
- Article
Association between the candidate susceptibility gene ACVR2A on chromosome 2q22 and pre-eclampsia in a large Norwegian population-based study (the HUNT study).
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 2, p. 250, doi. 10.1038/ejhg.2008.158
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- Publication type:
- Article
A familial inverted duplication/deletion of 2p25.1–25.3 provides new clues on the genesis of inverted duplications.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 2, p. 179, doi. 10.1038/ejhg.2008.160
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- Publication type:
- Article
Meta-analysis of genome-wide linkage studies across autoimmune diseases.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 2, p. 236, doi. 10.1038/ejhg.2008.163
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- Publication type:
- Article
PTCH1 duplication in a family with microcephaly and mild developmental delay.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 2, p. 267, doi. 10.1038/ejhg.2008.176
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- Publication type:
- Article
Common inversion polymorphisms and rare microdeletions at 15q13.3.
- Published in:
- 2009
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- Publication type:
- Letter
Screening for replication of genome-wide SNP associations in sporadic ALS.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 2, p. 213, doi. 10.1038/ejhg.2008.194
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- Publication type:
- Article
On Jim Watson's APOE status: genetic information is hard to hide.
- Published in:
- 2009
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- Publication type:
- Letter
Amyotrophic Lateral Sclerosis: Genome-wide association studies in amyotrophic lateral sclerosis.
- Published in:
- 2009
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- Publication type:
- Editorial
Kallmann syndrome.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 2, p. 139, doi. 10.1038/ejhg.2008.206
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- Publication type:
- Article