Found: 16
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Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia.
- Published in:
- Human Genetics, 2002, v. 111, n. 6, p. 501, doi. 10.1007/s00439-002-0813-4
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- Publication type:
- Article
Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome.
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- Human Genetics, 2002, v. 111, n. 6, p. 548, doi. 10.1007/s00439-002-0830-3
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- Article
Positive results in association studies are associated with departure from Hardy-Weinberg equilibrium: hint for genotyping error?
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- Human Genetics, 2002, v. 111, n. 6, p. 573, doi. 10.1007/s00439-002-0819-y
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- Article
Markers that discriminate between European and African ancestry show limited variation within Africa.
- Published in:
- Human Genetics, 2002, v. 111, n. 6, p. 566, doi. 10.1007/s00439-002-0818-z
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- Article
Presence of fetal DNA in maternal plasma decades after pregnancy: further comments.
- Published in:
- Human Genetics, 2002, v. 111, n. 6, p. 576, doi. 10.1007/s00439-002-0797-0
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- Publication type:
- Article
Bioinformatics – from genomes to drugs (2 volumes): Thomas Lenauger (editor), Wiley-VCH, New York, ISBN 3-527-29988-2, Hardcover (2 vols), £170.00.
- Published in:
- 2002
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- Publication type:
- Book Review
Genetic testing and risk assessment for spinal muscular atrophy (SMA).
- Published in:
- Human Genetics, 2002, v. 111, n. 6, p. 477, doi. 10.1007/s00439-002-0828-x
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- Article
Autosomal recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2).
- Published in:
- Human Genetics, 2002, v. 111, n. 6, p. 544, doi. 10.1007/s00439-002-0820-5
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- Article
Sequence polymorphism at the human apolipoprotein AII gene (APOA2): unexpected deficit of variation in an African-American sample.
- Published in:
- 2002
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- Publication type:
- Erratum
Hereditary haemochromatosis: only 1% of adult HFE C282Y homozygotes in South Wales have a clinical diagnosis of iron overload.
- Published in:
- Human Genetics, 2002, v. 111, n. 6, p. 538, doi. 10.1007/s00439-002-0824-1
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- Article
Population variation in linkage disequilibrium across the COMT gene considering promoter region and coding region variation.
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- Human Genetics, 2002, v. 111, n. 6, p. 521, doi. 10.1007/s00439-002-0809-0
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- Article
Jan Klein, Naoyuki Takahata: Where do we come from? The molecular evidence for human descent: Springer, Berlin Heidelberg New York, 2002, 462 pp (ISBN 3-540-42564-0) EUR 44.95, GBP 31.50, US$ 49.95.
- Published in:
- 2002
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- Publication type:
- Book Review
A novel approach for identifying candidate imprinted genes through sequence analysis of imprinted and control genes.
- Published in:
- Human Genetics, 2002, v. 111, n. 6, p. 511, doi. 10.1007/s00439-002-0822-3
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- Publication type:
- Article
Evidence against the long-term persistence of fetal DNA in maternal plasma after pregnancy.
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- Human Genetics, 2002, v. 111, n. 6, p. 575, doi. 10.1007/s00439-002-0796-1
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- Publication type:
- Article
Association found between the promoter region polymorphism in the apolipoprotein A-V gene and the serum triglyceride level in Japanese schoolchildren.
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- Human Genetics, 2002, v. 111, n. 6, p. 570, doi. 10.1007/s00439-002-0825-0
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- Publication type:
- Article
Nonsense-mediated RNA decay in the TSC1 gene suggests a useful tool pre- and post-positional cloning.
- Published in:
- Human Genetics, 2002, v. 111, n. 6, p. 555, doi. 10.1007/s00439-002-0821-4
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- Publication type:
- Article