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
- By:
- Publication type:
- Article
Works matching IS 10184813 AND DT 2007 AND VI 15 AND IP 5
Results: 19
1
2
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
- By:
- Publication type:
- Article
3
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
- By:
- Publication type:
- Article
4
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
- By:
- Publication type:
- Article
5
Identification of a candidate genetic variant for the high prevalence of type II diabetes in Polynesians.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 5, p. 584, doi. 10.1038/sj.ejhg.5201793
- By:
- Publication type:
- Article
6
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
- By:
- Publication type:
- Article
7
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
- By:
- Publication type:
- Article
8
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
- By:
- Publication type:
- Article
9
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
- By:
- Publication type:
- Article
10
Angioma serpiginosum with oesophageal papillomatosis is an X-linked dominant condition that maps to Xp11.3–Xq12.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 5, p. 543, doi. 10.1038/sj.ejhg.5201800
- By:
- Publication type:
- Article
11
Genetic component of identification, intensity and pleasantness of odours: a Finnish family study.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 5, p. 596, doi. 10.1038/sj.ejhg.5201804
- By:
- Publication type:
- Article
12
Reply to Inácio et al.
- Published in:
- 2007
- By:
- Publication type:
- Letter
13
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
- By:
- Publication type:
- Article
14
Comment on ‘Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease’.
- Published in:
- 2007
- By:
- Publication type:
- Letter
15
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
- By:
- Publication type:
- Article
16
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
- By:
- Publication type:
- Article
17
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
- By:
- Publication type:
- Article
18
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
- By:
- Publication type:
- Article
19
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
- By:
- Publication type:
- Correction Notice