Works matching IS 10184813 AND DT 2007 AND VI 15 AND IP 5
Results: 19
Joubert syndrome (and related disorders) (OMIM 213300).
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 5, p. 511, doi. 10.1038/sj.ejhg.5201648
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- Publication type:
- Article
Concern, pressure and lack of knowledge affect choice of not wanting to know high-risk status.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 5, p. 556, doi. 10.1038/sj.ejhg.5201786
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- Article
Undergoing prenatal screening for Down's syndrome: presentation of choice and information in Europe and Asia.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 5, p. 563, doi. 10.1038/sj.ejhg.5201790
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- Article
Legal pathways for cross-border research: building a legal platform for biomedical academia.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 5, p. 522, doi. 10.1038/sj.ejhg.5201792
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- Publication type:
- Article
Identification of a candidate genetic variant for the high prevalence of type II diabetes in Polynesians.
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- European Journal of Human Genetics, 2007, v. 15, n. 5, p. 584, doi. 10.1038/sj.ejhg.5201793
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- Publication type:
- Article
De novo t(12;17)(p13.3;q21.3) translocation with a breakpoint near the 5′ end of the HOXB gene cluster in a patient with developmental delay and skeletal malformations.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 5, p. 570, doi. 10.1038/sj.ejhg.5201795
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- Article
A common SNP haplotype provides molecular proof of a founder effect of Huntington disease linking two South African populations.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 5, p. 590, doi. 10.1038/sj.ejhg.5201796
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- Article
The X chromosome Alu insertions as a tool for human population genetics: data from European and African human groups.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 5, p. 578, doi. 10.1038/sj.ejhg.5201797
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- Publication type:
- Article
Three-dimensional face shape in Fabry disease.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 5, p. 535, doi. 10.1038/sj.ejhg.5201798
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- Publication type:
- Article
Angioma serpiginosum with oesophageal papillomatosis is an X-linked dominant condition that maps to Xp11.3–Xq12.
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- European Journal of Human Genetics, 2007, v. 15, n. 5, p. 543, doi. 10.1038/sj.ejhg.5201800
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- Article
Genetic component of identification, intensity and pleasantness of odours: a Finnish family study.
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- European Journal of Human Genetics, 2007, v. 15, n. 5, p. 596, doi. 10.1038/sj.ejhg.5201804
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- Article
Reply to Inácio et al.
- Published in:
- 2007
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- Publication type:
- Letter
Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 5, p. 548, doi. 10.1038/sj.ejhg.5201807
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- Publication type:
- Article
Comment on ‘Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease’.
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- 2007
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- Publication type:
- Letter
Cytogenetic Guidelines and Quality Assurance: a common European framework for quality assessment for constitutional and acquired cytogenetic investigations.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 5, p. 525, doi. 10.1038/sj.ejhg.5201809
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- Publication type:
- Article
A legal framework for biobanking: the German experience.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 5, p. 528, doi. 10.1038/sj.ejhg.5201810
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- Article
Insights into modern disease from our distant evolutionary past.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 5, p. 603, doi. 10.1038/sj.ejhg.5201811
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- Publication type:
- Article
Hidden African Ancestors: Hidden secrets of your ancestors.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 5, p. 509, doi. 10.1038/sj.ejhg.5201820
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- Publication type:
- Article
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.
- Published in:
- 2007
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