Works matching IS 03406717 AND DT 2006 AND VI 118 AND IP 6
Results: 15
Phylogenetic relationship of the populations within and around Japan using 105 short tandem repeat polymorphic loci.
- Published in:
- Human Genetics, 2006, v. 118, n. 6, p. 695, doi. 10.1007/s00439-005-0106-9
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- Publication type:
- Article
Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping.
- Published in:
- Human Genetics, 2006, v. 118, n. 6, p. 680, doi. 10.1007/s00439-005-0070-4
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- Publication type:
- Article
Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of the OPA1 gene.
- Published in:
- Human Genetics, 2006, v. 118, n. 6, p. 767, doi. 10.1007/s00439-005-0096-7
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- Publication type:
- Article
Evaluating HapMap SNP data transferability in a large-scale genotyping project involving 175 cancer-associated genes.
- Published in:
- Human Genetics, 2006, v. 118, n. 6, p. 669, doi. 10.1007/s00439-005-0094-9
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- Publication type:
- Article
Kieran C. Murphy, Peter J. Scambler (eds): Velo-cardio-facial syndrome: a model for understanding microdeletion disorders (2005).
- Published in:
- 2006
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- Publication type:
- Book Review
Human F7 sequence is split into three deep clades that are related to FVII plasma levels.
- Published in:
- Human Genetics, 2006, v. 118, n. 6, p. 741, doi. 10.1007/s00439-005-0045-5
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- Publication type:
- Article
Variants of the SFTPA1 and SFTPA2 genes and susceptibility to tuberculosis in Ethiopia.
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- Human Genetics, 2006, v. 118, n. 6, p. 752, doi. 10.1007/s00439-005-0092-y
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- Publication type:
- Article
Variants in Deleted in AZoospermia-Like ( DAZL) are correlated with reproductive parameters in men and women.
- Published in:
- Human Genetics, 2006, v. 118, n. 6, p. 730, doi. 10.1007/s00439-005-0098-5
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- Publication type:
- Article
Analysis of families with common variable immunodeficiency (CVID) and IgA deficiency suggests linkage of CVID to chromosome 16q.
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- Human Genetics, 2006, v. 118, n. 6, p. 725, doi. 10.1007/s00439-005-0101-1
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- Publication type:
- Article
Two-locus genome-wide linkage scan for prostate cancer susceptibility genes with an interaction effect.
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- Human Genetics, 2006, v. 118, n. 6, p. 716, doi. 10.1007/s00439-005-0099-4
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- Publication type:
- Article
SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly.
- Published in:
- Human Genetics, 2006, v. 118, n. 6, p. 708, doi. 10.1007/s00439-005-0104-y
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- Publication type:
- Article
Novel human pathological mutations.
- Published in:
- Human Genetics, 2006, v. 118, n. 6, p. 774, doi. 10.1007/s00439-005-0109-6
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- Publication type:
- Article
The euchromatic 9p+ polymorphism is a locus-specific amplification caused by repeated copies of a small DNA segment mapping within 9p12.
- Published in:
- Human Genetics, 2006, v. 118, n. 6, p. 760, doi. 10.1007/s00439-005-0085-x
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- Publication type:
- Article
First steps in antenatal diagnosis, 1956.
- Published in:
- Human Genetics, 2006, v. 118, n. 6, p. 772, doi. 10.1007/s00439-005-0095-8
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- Publication type:
- Article
Extreme skewing of X chromosome inactivation in mothers of homosexual men.
- Published in:
- Human Genetics, 2006, v. 118, n. 6, p. 691, doi. 10.1007/s00439-005-0119-4
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- Publication type:
- Article