Found: 13
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Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome.
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- European Journal of Human Genetics, 2001, v. 9, n. 4, p. 260
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- Article
Alu insertion polymorphisms and the genetic structure of human populations from the Caucasus.
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- European Journal of Human Genetics, 2001, v. 9, n. 4, p. 267, doi. 10.1038/sj.ejhg.5200615
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- Article
An alpha<sub>1</sub>-antitrypsin enhancer polymorphism is a genetic modifier of pulmonary outcome in cystic fibrosis.
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- European Journal of Human Genetics, 2001, v. 9, n. 4, p. 273, doi. 10.1038/sj.ejhg.5200623
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- Article
Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.
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- European Journal of Human Genetics, 2001, v. 9, n. 4, p. 253, doi. 10.1038/sj.ejhg.5200595
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- Article
The family based association test method: strategies for studying general genotype–phenotype associations.
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- European Journal of Human Genetics, 2001, v. 9, n. 4, p. 301, doi. 10.1038/sj.ejhg.5200625
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- Article
Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation.
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- European Journal of Human Genetics, 2001, v. 9, n. 4, p. 237, doi. 10.1038/sj.ejhg.5200620
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- Article
The mitochondrial DNA mutation T12297C affects a highly conserved nucleotide of tRNA<sup>Leu(CUN)</sup> and is associated with dilated cardiomyopathy.
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- European Journal of Human Genetics, 2001, v. 9, n. 4, p. 311, doi. 10.1038/sj.ejhg.5200622
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- Article
3rd International Meeting on Single Nucleotide Polymorphism and Complex Genome Analysis: SNPs: ‘Some Notable Progress’.
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- European Journal of Human Genetics, 2001, v. 9, n. 4, p. 316, doi. 10.1038/sj.ejhg.5200616
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- Article
Haplotypes vs single marker linkage disequilibrium tests: what do we gain?
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- European Journal of Human Genetics, 2001, v. 9, n. 4, p. 291, doi. 10.1038/sj.ejhg.5200619
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- Article
Saturating density of STSs (1/6 kb) in a 1.1 Mb region on 3q28-q29: a valuable resource for cloning of disease genes.
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- European Journal of Human Genetics, 2001, v. 9, n. 4, p. 307, doi. 10.1038/sj.ejhg.5200630
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- Article
A placental diploid cell line is not essential for ongoing trisomy 13 or 18 pregnancies.
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- European Journal of Human Genetics, 2001, v. 9, n. 4, p. 286, doi. 10.1038/sj.ejhg.5200631
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- Article
A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom.
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- European Journal of Human Genetics, 2001, v. 9, n. 4, p. 244, doi. 10.1038/sj.ejhg.5200633
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- Article
Is mitochondrial DNA depletion involved in Alzheimer's disease?
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- European Journal of Human Genetics, 2001, v. 9, n. 4, p. 279
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- Article