Works matching IS 10184813 AND DT 2005 AND VI 13 AND IP 8
Results: 19
Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 8, p. 921, doi. 10.1038/sj.ejhg.5201429
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- Publication type:
- Article
Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 8, p. 983, doi. 10.1038/sj.ejhg.5201421
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- Publication type:
- Article
The pick of the crop.
- Published in:
- 2005
- By:
- Publication type:
- Book Review
Measured haplotype analysis of the aldosterone synthase gene and heart size.
- Published in:
- 2005
- By:
- Publication type:
- Correction Notice
The difference between observed and expected prevalence of MCAD deficiency in The Netherlands: a genetic epidemiological study.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 8, p. 947, doi. 10.1038/sj.ejhg.5201428
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- Publication type:
- Article
Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 8, p. 913, doi. 10.1038/sj.ejhg.5201415
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- Publication type:
- Article
High-throughput pedigree drawing.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 8, p. 987, doi. 10.1038/sj.ejhg.5201430
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- Publication type:
- Article
A most welcome new edition in a fast advancing field.
- Published in:
- 2005
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- Publication type:
- Book Review
RAR-related orphan receptor A isoform 1 (RORa1) is disrupted by a balanced translocation t(4;15)(q22.3;q21.3) associated with severe obesity.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 8, p. 928, doi. 10.1038/sj.ejhg.5201433
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- Publication type:
- Article
Short tandem repeats haplotyping of the HLA region in preimplantation HLA matching.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 8, p. 953, doi. 10.1038/sj.ejhg.5201435
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- Publication type:
- Article
Hutterite brothers both affected with two forms of limb girdle muscular dystrophy: LGMD2H and LGMD2I.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 8, p. 978, doi. 10.1038/sj.ejhg.5201436
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- Publication type:
- Article
Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 8, p. 959, doi. 10.1038/sj.ejhg.5201437
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- Publication type:
- Article
Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 8, p. 965, doi. 10.1038/sj.ejhg.5201438
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- Publication type:
- Article
The population history of the Croatian linguistic minority of Molise (southern Italy): a maternal view.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 8, p. 902, doi. 10.1038/sj.ejhg.5201439
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- Publication type:
- Article
Typing without calling the allele: a strategy for inferring SNP haplotypes.
- Published in:
- 2005
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- Publication type:
- Letter
Bioinformatics: Computers or clinicians for complex disease risk assessment?
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 8, p. 893, doi. 10.1038/sj.ejhg.5201441
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- Publication type:
- Article
Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 8, p. 970, doi. 10.1038/sj.ejhg.5201445
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- Publication type:
- Article
Genotype–phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 8, p. 935, doi. 10.1038/sj.ejhg.5201446
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- Publication type:
- Article
Genomics: The amazing complexity of the human transcriptome.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 8, p. 894, doi. 10.1038/sj.ejhg.5201459
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- Publication type:
- Article