Works matching IS 10184813 AND DT 2008 AND VI 16 AND IP 2
Results: 23
Exploration of gene–gene interaction effects using entropy-based methods.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 2, p. 229, doi. 10.1038/sj.ejhg.5201921
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- Article
A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract.
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- European Journal of Human Genetics, 2008, v. 16, n. 2, p. 261, doi. 10.1038/sj.ejhg.5201935
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- Article
Bases, Bits and Disease: Bases, bits and disease: a mathematical theory of human genetics.
- Published in:
- 2008
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- Publication type:
- Letter
An assessment of the Irish population for large-scale genetic mapping studies involving epilepsy and other complex diseases.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 2, p. 176, doi. 10.1038/sj.ejhg.5201938
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- Article
All I wanted to know about congenital developmental defects.
- Published in:
- 2008
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- Publication type:
- Book Review
Patient mutations alter ATRX targeting to PML nuclear bodies.
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- European Journal of Human Genetics, 2008, v. 16, n. 2, p. 192, doi. 10.1038/sj.ejhg.5201943
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- Article
X inactivation in triploidy and trisomy: the search for autosomal transfactors that choose the active X.
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- European Journal of Human Genetics, 2008, v. 16, n. 2, p. 153, doi. 10.1038/sj.ejhg.5201944
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- Article
Expanded high-resolution genetic study of 109 Swedish families with Alzheimer's disease.
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- European Journal of Human Genetics, 2008, v. 16, n. 2, p. 202, doi. 10.1038/sj.ejhg.5201946
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- Article
A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy.
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- European Journal of Human Genetics, 2008, v. 16, n. 2, p. 209, doi. 10.1038/sj.ejhg.5201949
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- Publication type:
- Article
A novel sampling design to explore gene-longevity associations: the ECHA study.
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- European Journal of Human Genetics, 2008, v. 16, n. 2, p. 236, doi. 10.1038/sj.ejhg.5201950
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- Article
Haplotype patterns in cancer-related genes with long-range linkage disequilibrium: no evidence of association with breast cancer or positive selection.
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- European Journal of Human Genetics, 2008, v. 16, n. 2, p. 252, doi. 10.1038/sj.ejhg.5201953
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- Article
Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17.
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- European Journal of Human Genetics, 2008, v. 16, n. 2, p. 215, doi. 10.1038/sj.ejhg.5201954
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- Article
ALS predisposition modifiers: Knock NOX, who's there? SOD1 mice still are.
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- European Journal of Human Genetics, 2008, v. 16, n. 2, p. 140, doi. 10.1038/sj.ejhg.5201961
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- Publication type:
- Article
Is the prevalence of Klinefelter syndrome increasing?
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- European Journal of Human Genetics, 2008, v. 16, n. 2, p. 163, doi. 10.1038/sj.ejhg.5201956
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- Publication type:
- Article
Fifth finger camptodactyly maps to chromosome 3q11.2–q13.12 in a large German kindred.
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- European Journal of Human Genetics, 2008, v. 16, n. 2, p. 265, doi. 10.1038/sj.ejhg.5201957
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- Publication type:
- Article
The novel hyperekplexia allele GLRA1(S267N) affects the ethanol site of the glycine receptor.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 2, p. 223, doi. 10.1038/sj.ejhg.5201958
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- Publication type:
- Article
Carrier screening: look before you leap: Carrier screening for type 1 Gaucher disease: difficult questions.
- Published in:
- 2008
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- Publication type:
- Letter
Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 2, p. 145, doi. 10.1038/sj.ejhg.5201955
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- Publication type:
- Article
Population genetic diversity of the NAT2 gene supports a role of acetylation in human adaptation to farming in Central Asia.
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- European Journal of Human Genetics, 2008, v. 16, n. 2, p. 243, doi. 10.1038/sj.ejhg.5201963
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- Publication type:
- Article
Low prevalence of APP duplications in Swedish and Finnish patients with early-onset Alzheimer's disease.
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- European Journal of Human Genetics, 2008, v. 16, n. 2, p. 171, doi. 10.1038/sj.ejhg.5201966
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- Publication type:
- Article
Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome.
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- European Journal of Human Genetics, 2008, v. 16, n. 2, p. 270, doi. 10.1038/sj.ejhg.5201967
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- Publication type:
- Article
Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic.
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- European Journal of Human Genetics, 2008, v. 16, n. 2, p. 184, doi. 10.1038/sj.ejhg.5201968
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- Publication type:
- Article
Molecular screening for familial hypercholesterolaemia: consequences for life and disability insurance.
- Published in:
- 2008
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- Correction Notice