Works matching IS 10184813 AND DT 2010 AND VI 18 AND IP 5
Results: 22
Menkes disease.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 5, p. 511, doi. 10.1038/ejhg.2009.187
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- Publication type:
- Article
A data-driven weighting scheme for family-based genome-wide association studies.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 5, p. 596, doi. 10.1038/ejhg.2009.201
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- Publication type:
- Article
Genome scan for loci regulating HDL cholesterol levels in Finnish extended pedigrees with early coronary heart disease.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 5, p. 604, doi. 10.1038/ejhg.2009.202
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- Publication type:
- Article
New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination?
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 5, p. 533, doi. 10.1038/ejhg.2009.207
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- Publication type:
- Article
Systematic genotype–phenotype analysis of autism susceptibility loci implicates additional symptoms to co-occur with autism.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 5, p. 588, doi. 10.1038/ejhg.2009.206
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- Publication type:
- Article
Genome-wide SNP analysis reveals no gain in power for association studies of common variants in the Finnish Saami.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 5, p. 569, doi. 10.1038/ejhg.2009.210
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- Publication type:
- Article
Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 5, p. 539, doi. 10.1038/ejhg.2009.211
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- Publication type:
- Article
Modulation of aberrant NF1 pre-mRNA splicing by kinetin treatment.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 5, p. 614, doi. 10.1038/ejhg.2009.212
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- Publication type:
- Article
Hexose-6-phosphate dehydrogenase: a new risk gene for multiple sclerosis.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 5, p. 618, doi. 10.1038/ejhg.2009.213
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- Publication type:
- Article
Legal and ethical consequences of international biobanking from a national perspective: the German BMB-EUCoop project.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 5, p. 522, doi. 10.1038/ejhg.2009.214
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- Publication type:
- Article
Complete mitochondrial DNA sequences provide new insights into the Polynesian motif and the peopling of Madagascar.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 5, p. 575, doi. 10.1038/ejhg.2009.222
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- Publication type:
- Article
Enhancer elements upstream of the SHOX gene are active in the developing limb.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 5, p. 527, doi. 10.1038/ejhg.2009.216
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- Publication type:
- Article
De Barsy syndrome and ATP6V0A2-CDG.
- Published in:
- 2010
- By:
- Publication type:
- Letter
Reply to Leao-Teles et al.
- Published in:
- 2010
- By:
- Publication type:
- Letter
CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 5, p. 544, doi. 10.1038/ejhg.2009.220
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- Publication type:
- Article
The (CAG)<sub>n</sub> tract of Machado–Joseph Disease gene (ATXN3): a comparison between DNA and mRNA in patients and controls.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 5, p. 621, doi. 10.1038/ejhg.2009.215
- By:
- Publication type:
- Article
A gene-based method for detecting gene–gene co-association in a case–control association study.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 5, p. 582, doi. 10.1038/ejhg.2009.223
- By:
- Publication type:
- Article
Differential decay of parent-of-origin-specific genomic sharing in cystic fibrosis-affected sib pairs maps a paternally imprinted locus to 7q34.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 5, p. 553, doi. 10.1038/ejhg.2009.229
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- Publication type:
- Article
Frequent genetic differences between matched primary and metastatic breast cancer provide an approach to identification of biomarkers for disease progression.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 5, p. 560, doi. 10.1038/ejhg.2009.230
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- Publication type:
- Article
Corrigendum to: CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes.
- Published in:
- 2010
- By:
- Publication type:
- Correction Notice
Italian appeal court: a genetic predisposition to commit murder?
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 5, p. 519, doi. 10.1038/ejhg.2010.31
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- Publication type:
- Article
Leena Palotie-Peltonen, 1952–2010, visionary and role model.
- Published in:
- 2010
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- Publication type:
- Obituary