Works matching IS 10184813 AND DT 2010 AND VI 18 AND IP 1
Results: 26
Beckwith–Wiedemann syndrome.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 1, p. 8, doi. 10.1038/ejhg.2009.106
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- Article
Association of FTO variants with BMI and fat mass in the self-contained population of Sorbs in Germany.
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- European Journal of Human Genetics, 2010, v. 18, n. 1, p. 104, doi. 10.1038/ejhg.2009.107
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- Article
An atypical 7q11.23 deletion in a normal IQ Williams–Beuren syndrome patient.
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- European Journal of Human Genetics, 2010, v. 18, n. 1, p. 33, doi. 10.1038/ejhg.2009.108
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- Article
Legacy of mutiny on the Bounty: founder effect and admixture on Norfolk Island.
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- European Journal of Human Genetics, 2010, v. 18, n. 1, p. 67, doi. 10.1038/ejhg.2009.111
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- Article
The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family.
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- European Journal of Human Genetics, 2010, v. 18, n. 1, p. 62, doi. 10.1038/ejhg.2009.112
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- Article
Support for the involvement of complement factor I in age-related macular degeneration.
- Published in:
- 2010
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- Publication type:
- Letter
Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 1, p. 118, doi. 10.1038/ejhg.2009.114
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- Publication type:
- Article
Gene and pathway-based second-wave analysis of genome-wide association studies.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 1, p. 111, doi. 10.1038/ejhg.2009.115
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- Publication type:
- Article
SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 1, p. 52, doi. 10.1038/ejhg.2009.116
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- Article
Specific epigenetic alterations of IGF2-H19 locus in spermatozoa from infertile men.
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- European Journal of Human Genetics, 2010, v. 18, n. 1, p. 73, doi. 10.1038/ejhg.2009.117
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- Publication type:
- Article
A comprehensive approach to haplotype-specific analysis by penalized likelihood.
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- European Journal of Human Genetics, 2010, v. 18, n. 1, p. 95, doi. 10.1038/ejhg.2009.118
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- Article
On the use of sibling recurrence risks to select environmental factors liable to interact with genetic risk factors.
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- European Journal of Human Genetics, 2010, v. 18, n. 1, p. 88, doi. 10.1038/ejhg.2009.119
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- Article
Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 1, p. 39, doi. 10.1038/ejhg.2009.120
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- Article
DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 1, p. 125, doi. 10.1038/ejhg.2009.121
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- Publication type:
- Article
In vitro readthrough of termination codons by gentamycin in the Stüve–Wiedemann Syndrome.
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- European Journal of Human Genetics, 2010, v. 18, n. 1, p. 130, doi. 10.1038/ejhg.2009.122
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- Article
What you always wanted to know about Huntington's disease.
- Published in:
- 2010
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- Book Review
The genomic era and the new frontiers of medicine.
- Published in:
- 2010
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- Publication type:
- Book Review
APOC3 deficiency: from mice to man.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 1, p. 1, doi. 10.1038/ejhg.2009.126
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- Publication type:
- Article
Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis.
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- European Journal of Human Genetics, 2010, v. 18, n. 1, p. 19, doi. 10.1038/ejhg.2009.127
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- Publication type:
- Article
The candidate gene approach in asthma: what happens with the neighbours?
- Published in:
- 2010
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- Publication type:
- Letter
Differential MSH2 promoter methylation in blood cells of Neurofibromatosis type 1 (NF1) patients.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 1, p. 81, doi. 10.1038/ejhg.2009.129
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- Article
Reply to Reijmerink et al.
- Published in:
- 2010
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- Publication type:
- Letter
The common biological basis for common complex diseases: evidence from lipoprotein lipase gene.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 1, p. 3, doi. 10.1038/ejhg.2009.134
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- Article
Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis.
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- European Journal of Human Genetics, 2010, v. 18, n. 1, p. 26, doi. 10.1038/ejhg.2009.135
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- Publication type:
- Article
Depletion of potential A2M risk haplotype for Alzheimer's disease in long-lived individuals.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 1, p. 59, doi. 10.1038/ejhg.2009.136
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- Publication type:
- Article
Public interest in predictive genetic testing, including direct-to-consumer testing, for susceptibility to major depression: preliminary findings.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 1, p. 47, doi. 10.1038/ejhg.2009.138
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- Publication type:
- Article