Works matching IS 10184813 AND DT 2004 AND VI 12 AND IP 7
Results: 12
Founder mutations among the Dutch.
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- European Journal of Human Genetics, 2004, v. 12, n. 7, p. 591, doi. 10.1038/sj.ejhg.5201151
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- Article
Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndrome.
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- European Journal of Human Genetics, 2004, v. 12, n. 7, p. 551, doi. 10.1038/sj.ejhg.5201174
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Features of chromosomal abnormalities in spontaneous abortion cell culture failures detected by interphase FISH analysis.
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- European Journal of Human Genetics, 2004, v. 12, n. 7, p. 513, doi. 10.1038/sj.ejhg.5201178
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- Article
Association between schizophrenia and DRD3 or HTR2 receptor gene variants.
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- European Journal of Human Genetics, 2004, v. 12, n. 7, p. 535, doi. 10.1038/sj.ejhg.5201180
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- Article
Maternal MTHFR interacts with the offspring's BCL3 genotypes, but not with TGFA, in increasing risk to nonsyndromic cleft lip with or without cleft palate.
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- European Journal of Human Genetics, 2004, v. 12, n. 7, p. 521, doi. 10.1038/sj.ejhg.5201187
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- Article
Linkage disequilibrium in young genetically isolated Dutch population.
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- European Journal of Human Genetics, 2004, v. 12, n. 7, p. 527, doi. 10.1038/sj.ejhg.5201188
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- Article
Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients.
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- European Journal of Human Genetics, 2004, v. 12, n. 7, p. 561, doi. 10.1038/sj.ejhg.5201189
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- Article
Are common disease susceptibility alleles the same in outbred and founder populations?
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- European Journal of Human Genetics, 2004, v. 12, n. 7, p. 584, doi. 10.1038/sj.ejhg.5201191
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- Article
β-Globin mutation detection by tagged single-base extension and hybridization to universal glass and flow-through microarrays.
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- European Journal of Human Genetics, 2004, v. 12, n. 7, p. 567, doi. 10.1038/sj.ejhg.5201192
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Efficient two-trait-locus linkage analysis through program optimization and parallelization: application to hypercholesterolemia.
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- European Journal of Human Genetics, 2004, v. 12, n. 7, p. 542, doi. 10.1038/sj.ejhg.5201196
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Physical and transcript map of the autosomal dominant colobomatous microphthalmia locus on chromosome 15q12-q15 and refinement to a 4.4?Mb region.
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- European Journal of Human Genetics, 2004, v. 12, n. 7, p. 574, doi. 10.1038/sj.ejhg.5201197
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- Article
Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family.
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- European Journal of Human Genetics, 2004, v. 12, n. 7, p. 579, doi. 10.1038/sj.ejhg.5201200
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