Works matching IS 10184813 AND DT 2004 AND VI 12 AND IP 9
Results: 15
CTLA4+49 A/G and CT60 polymorphisms in Dutch coeliac disease patients.
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- European Journal of Human Genetics, 2004, v. 12, n. 9, p. 782, doi. 10.1038/sj.ejhg.5201165
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Refined genotype-phenotype correlations in cases of chromosome 6p deletion syndromes.
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- European Journal of Human Genetics, 2004, v. 12, n. 9, p. 718, doi. 10.1038/sj.ejhg.5201194
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Noninvasive diagnosis of the 3243A>G mitochondrial DNA mutation using urinary epithelial cells.
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- European Journal of Human Genetics, 2004, v. 12, n. 9, p. 778, doi. 10.1038/sj.ejhg.5201216
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Survival motor neuron SMN1 and SMN2 gene promoters: identical sequences and differential expression in neurons and non-neuronal cells.
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- European Journal of Human Genetics, 2004, v. 12, n. 9, p. 729, doi. 10.1038/sj.ejhg.5201217
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Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype.
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- European Journal of Human Genetics, 2004, v. 12, n. 9, p. 738, doi. 10.1038/sj.ejhg.5201218
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A transmission disequilibrium test for general pedigrees that is robust to the presence of random genotyping errors and any number of untyped parents.
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- European Journal of Human Genetics, 2004, v. 12, n. 9, p. 752, doi. 10.1038/sj.ejhg.5201219
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Screening of the ARX gene in 682 retarded males.
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- European Journal of Human Genetics, 2004, v. 12, n. 9, p. 701, doi. 10.1038/sj.ejhg.5201222
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Haplotype analysis of BRCA1 gene reveals a new gene rearrangement: characterization of a 19.9 KBP deletion.
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- European Journal of Human Genetics, 2004, v. 12, n. 9, p. 775, doi. 10.1038/sj.ejhg.5201223
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The peptide nucleic acids (PNAs), powerful tools for molecular genetics and cytogenetics.
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- European Journal of Human Genetics, 2004, v. 12, n. 9, p. 694, doi. 10.1038/sj.ejhg.5201226
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Establishment of genetic associations for complex diseases is independent of early study findings.
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- European Journal of Human Genetics, 2004, v. 12, n. 9, p. 762, doi. 10.1038/sj.ejhg.5201227
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Mutation analysis of five candidate genes in Chinese patients with hypospadias.
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- European Journal of Human Genetics, 2004, v. 12, n. 9, p. 706, doi. 10.1038/sj.ejhg.5201232
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Inverted duplications: how many of them are mosaic?
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- European Journal of Human Genetics, 2004, v. 12, n. 9, p. 713, doi. 10.1038/sj.ejhg.5201240
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Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts.
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- European Journal of Human Genetics, 2004, v. 12, n. 9, p. 744, doi. 10.1038/sj.ejhg.5201242
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A trio family study showing association of the lymphotoxin-a N26 (804A) allele with coronary artery disease.
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- European Journal of Human Genetics, 2004, v. 12, n. 9, p. 770, doi. 10.1038/sj.ejhg.5201244
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Monogenic X-linked mental retardation: Is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations.
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- European Journal of Human Genetics, 2004, v. 12, n. 9, p. 689, doi. 10.1038/sj.ejhg.5201247
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