Works matching IS 10184813 AND DT 2005 AND VI 13 AND IP 10
Results: 13
Early onset seizures and Rett-like features associated with mutations in CDKL5.
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- European Journal of Human Genetics, 2005, v. 13, n. 10, p. 1113, doi. 10.1038/sj.ejhg.5201451
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- Article
Meta-analysis of four new genome scans for lipid parameters and analysis of positional candidates in positive linkage regions.
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- European Journal of Human Genetics, 2005, v. 13, n. 10, p. 1143, doi. 10.1038/sj.ejhg.5201466
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- Article
Genetic determinants of plasma HDL-cholesterol levels in familial hypercholesterolemia.
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- European Journal of Human Genetics, 2005, v. 13, n. 10, p. 1137, doi. 10.1038/sj.ejhg.5201467
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- Article
No evidence for an association between extreme longevity and Microsomal Transfer Protein polymorphisms in a longitudinal study of 1651 nonagenarians.
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- European Journal of Human Genetics, 2005, v. 13, n. 10, p. 1154, doi. 10.1038/sj.ejhg.5201468
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- Article
Effect of the APOC3 Sst I SNP on fasting triglyceride levels in men heterozygous for the LPL P207L deficiency.
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- European Journal of Human Genetics, 2005, v. 13, n. 10, p. 1159, doi. 10.1038/sj.ejhg.5201469
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- Article
Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype–phenotype associations in Rett syndrome.
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- European Journal of Human Genetics, 2005, v. 13, n. 10, p. 1121, doi. 10.1038/sj.ejhg.5201471
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- Article
Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations.
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- 2005
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- Correction Notice
Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 10, p. 1131, doi. 10.1038/sj.ejhg.5201475
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- Article
Mosaics of ancient mitochondrial DNA: positive indicators of nonauthenticity.
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- European Journal of Human Genetics, 2005, v. 13, n. 10, p. 1106, doi. 10.1038/sj.ejhg.5201476
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- Article
Cancer genetics: Finding the right mix.
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- European Journal of Human Genetics, 2005, v. 13, n. 10, p. 1099, doi. 10.1038/sj.ejhg.5201477
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- Article
Demography: Peopling the Americas.
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- European Journal of Human Genetics, 2005, v. 13, n. 10, p. 1100, doi. 10.1038/sj.ejhg.5201481
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- Article
Biological clock: Biological clocks may modulate drug addiction.
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- European Journal of Human Genetics, 2005, v. 13, n. 10, p. 1101, doi. 10.1038/sj.ejhg.5201483
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- Article
Research network: EuroGentest – a European Network of Excellence aimed at harmonizing genetic testing services.
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- European Journal of Human Genetics, 2005, v. 13, n. 10, p. 1103, doi. 10.1038/sj.ejhg.5201484
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- Article