Works matching IS 03406717 AND DT 2007 AND VI 122 AND IP 3/4
Results: 22
Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene.
- Published in:
- Human Genetics, 2007, v. 122, n. 3/4, p. 293, doi. 10.1007/s00439-007-0395-2
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- Publication type:
- Article
Refinement of the genetic cause of ATR-16.
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- Human Genetics, 2007, v. 122, n. 3/4, p. 283, doi. 10.1007/s00439-007-0399-y
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- Publication type:
- Article
Multilocus OCA2 genotypes specify human iris colors.
- Published in:
- Human Genetics, 2007, v. 122, n. 3/4, p. 311, doi. 10.1007/s00439-007-0401-8
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- Publication type:
- Article
Polymorphisms in the 3′ UTR in the neurocalcin δ gene affect mRNA stability, and confer susceptibility to diabetic nephropathy.
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- Human Genetics, 2007, v. 122, n. 3/4, p. 397, doi. 10.1007/s00439-007-0414-3
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- Publication type:
- Article
Synergistic contribution of CD14 and HLA loci in the susceptibility to Buerger disease.
- Published in:
- Human Genetics, 2007, v. 122, n. 3/4, p. 367, doi. 10.1007/s00439-007-0408-1
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- Publication type:
- Article
In vitro and ex vivo suppression by aminoglycosides of PCDH15 nonsense mutations underlying type 1 Usher syndrome.
- Published in:
- Human Genetics, 2007, v. 122, n. 3/4, p. 373, doi. 10.1007/s00439-007-0410-7
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- Publication type:
- Article
Variation in estimated recombination rates across human populations.
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- Human Genetics, 2007, v. 122, n. 3/4, p. 301, doi. 10.1007/s00439-007-0391-6
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- Publication type:
- Article
The effects of polymorphisms in genes from the renin–angiotensin, bradykinin, and fibrinolytic systems on plasma t-PA and PAI-1 levels are dependent on environmental context.
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- Human Genetics, 2007, v. 122, n. 3/4, p. 275, doi. 10.1007/s00439-007-0400-9
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- Publication type:
- Article
Genetic variation in prehistoric Sardinia.
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- Human Genetics, 2007, v. 122, n. 3/4, p. 327, doi. 10.1007/s00439-007-0403-6
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- Publication type:
- Article
Progress in defining the molecular biology of age related macular degeneration.
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- Human Genetics, 2007, v. 122, n. 3/4, p. 219, doi. 10.1007/s00439-007-0406-3
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- Publication type:
- Article
Evidence for a large double-cruciform DNA structure on the X chromosome of human and chimpanzee.
- Published in:
- Human Genetics, 2007, v. 122, n. 3/4, p. 337, doi. 10.1007/s00439-007-0405-4
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- Publication type:
- Article
Variation in the selenoprotein S gene locus is associated with coronary heart disease and ischemic stroke in two independent Finnish cohorts.
- Published in:
- Human Genetics, 2007, v. 122, n. 3/4, p. 355, doi. 10.1007/s00439-007-0402-7
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- Publication type:
- Article
Quantitative effects of common genetic variations in the 3′UTR of the human LDL-receptor gene and their associations with plasma lipid levels in the Atherosclerosis Risk in Communities study.
- Published in:
- 2007
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- Publication type:
- Correction Notice
Novel human pathological mutations.
- Published in:
- Human Genetics, 2007, v. 122, n. 3/4, p. 413, doi. 10.1007/s00439-007-0411-6
- Publication type:
- Article
Germ-line DNA copy number variation frequencies in a large North American population.
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- Human Genetics, 2007, v. 122, n. 3/4, p. 345, doi. 10.1007/s00439-007-0404-5
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- Publication type:
- Article
Comments on the paper by D. Li and L. He: Meta-analysis shows association between the tryptophan hydroxylase ( TPH) gene and schizophrenia.
- Published in:
- 2007
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- Publication type:
- Letter
Tagging SNPs in the kallikrein genes 3 and 2 on 19q13 and their associations with prostate cancer in men of European origin.
- Published in:
- Human Genetics, 2007, v. 122, n. 3/4, p. 251, doi. 10.1007/s00439-007-0394-3
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- Publication type:
- Article
A novel locus for autosomal dominant “uncomplicated” hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3.
- Published in:
- Human Genetics, 2007, v. 122, n. 3/4, p. 261, doi. 10.1007/s00439-007-0396-1
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- Publication type:
- Article
Molecular characterization of a polymorphic 3-Mb deletion at chromosome Yp11.2 containing the AMELY locus in Singapore and Malaysia populations.
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- Human Genetics, 2007, v. 122, n. 3/4, p. 237, doi. 10.1007/s00439-007-0389-0
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- Publication type:
- Article
Y chromosomes of prehistoric people along the Yangtze River.
- Published in:
- Human Genetics, 2007, v. 122, n. 3/4, p. 383, doi. 10.1007/s00439-007-0407-2
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- Publication type:
- Article
Novel Robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulum.
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- Human Genetics, 2007, v. 122, n. 3/4, p. 389, doi. 10.1007/s00439-007-0409-0
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- Publication type:
- Article
Editorial.
- Published in:
- 2007
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- Publication type:
- Editorial