Works matching IS 10184813 AND DT 2004 AND VI 12 AND IP 3
Results: 16
Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 3, p. 173, doi. 10.1038/sj.ejhg.5201119
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- Publication type:
- Article
Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: genotype-phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 3, p. 225, doi. 10.1038/sj.ejhg.5201095
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- Publication type:
- Article
Association of the human adiponectin gene and insulin resistance.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 3, p. 199, doi. 10.1038/sj.ejhg.5201120
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- Publication type:
- Article
Susceptibility to pre-eclampsia in Finnish women is associated with R485K polymorphism in the factor V gene, not with Leiden mutation.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 3, p. 187, doi. 10.1038/sj.ejhg.5201124
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- Publication type:
- Article
Practical genetics: alpha-1-antitrypsin deficiency and the serpinopathies.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 3, p. 167, doi. 10.1038/sj.ejhg.5201127
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- Publication type:
- Article
Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophy.
- Published in:
- 2004
- By:
- Publication type:
- Report
RHD maternal-fetal genotype incompatibility and schizophrenia: extending the MFG test to include multiple siblings and birth order.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 3, p. 192, doi. 10.1038/sj.ejhg.5201129
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- Publication type:
- Article
Analysis of the CARD15 variants R702W, G908R and L1007fs in Italian IBD patients.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 3, p. 206, doi. 10.1038/sj.ejhg.5201130
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- Publication type:
- Article
The deleterious G15498A mutation in mitochondrial DNA-encoded cytochrome b may remain clinically silent in homoplasmic carriers.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 3, p. 220, doi. 10.1038/sj.ejhg.5201132
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- Publication type:
- Article
Difficulties of genetic counseling and prenatal diagnosis in a consanguineous couple segregating for the same translocation (14;15) (q11;q13) and at risk for Prader-Willi and Angelman syndromes.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 3, p. 181, doi. 10.1038/sj.ejhg.5201134
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- Publication type:
- Article
Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders.
- Published in:
- 2004
- By:
- Publication type:
- Report
Genome-wide scanning for linkage in Finnish breast cancer families.
- Published in:
- 2004
- By:
- Publication type:
- Correction Notice
Polymorphism R92Q of the tumour necrosis factor receptor 1 gene is associated with myocardial infarction and carotid intima-media thickness - The ECTIM, AXA, EVA and GENIC Studies.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 3, p. 213, doi. 10.1038/sj.ejhg.5201143
- By:
- Publication type:
- Article
Analysis of heavy neurofilament subunit gene polymorphism in Russian patients with sporadic motor neuron disease (MND).
- Published in:
- 2004
- By:
- Publication type:
- Report
Who supports the support workers? Cross-sectional survey of support workers’ experience and views.
- Published in:
- 2004
- By:
- Publication type:
- Report
FMF revisited.
- Published in:
- 2004
- By:
- Publication type:
- Letter