Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene.
- Published in:
- Human Genetics, 2005, v. 116, n. 5, p. 340, doi. 10.1007/s00439-004-1232-5
- By:
- Publication type:
- Article
Works matching IS 03406717 AND DT 2005 AND VI 116 AND IP 5
Results: 16
1
2
Julia Bell and theTreasury of Human Inheritance.
- Published in:
- Human Genetics, 2005, v. 116, n. 5, p. 422, doi. 10.1007/s00439-005-1264-5
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- Publication type:
- Article
3
TLR2 Arg677Trp polymorphism in leprosy: revisited.
- Published in:
- Human Genetics, 2005, v. 116, n. 5, p. 413, doi. 10.1007/s00439-004-1249-9
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- Publication type:
- Article
4
Human genetics: historical and personal perspectives.
- Published in:
- Human Genetics, 2005, v. 116, n. 5, p. 420, doi. 10.1007/s00439-005-1263-6
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- Publication type:
- Article
5
A common insertion/deletion polymorphism of the thymidylate synthase (TYMS) gene is a determinant of red blood cell folate and homocysteine concentrations.
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- Human Genetics, 2005, v. 116, n. 5, p. 347, doi. 10.1007/s00439-004-1243-2
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- Publication type:
- Article
6
CTLA-4polymorphisms and systemic lupus erythematosus (SLE): a meta-analysis.
- Published in:
- Human Genetics, 2005, v. 116, n. 5, p. 361, doi. 10.1007/s00439-004-1244-1
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- Publication type:
- Article
7
Association of susceptibility to the development of lung adenocarcinoma with the heme oxygenase-1 gene promoter polymorphism.
- Published in:
- Human Genetics, 2005, v. 116, n. 5, p. 354, doi. 10.1007/s00439-004-1162-2
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- Publication type:
- Article
8
DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1.
- Published in:
- Human Genetics, 2005, v. 116, n. 5, p. 407, doi. 10.1007/s00439-004-1247-y
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- Publication type:
- Article
9
The keeshond defect in cardiac conotruncal development is oligogenic<sup>1</sup>.
- Published in:
- Human Genetics, 2005, v. 116, n. 5, p. 368, doi. 10.1007/s00439-004-1242-3
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- Publication type:
- Article
10
Single-nucleotide polymorphisms of the KCNS3 gene are significantly associated with airway hyperresponsiveness.
- Published in:
- Human Genetics, 2005, v. 116, n. 5, p. 378, doi. 10.1007/s00439-005-1256-5
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- Publication type:
- Article
11
Molecular analysis of congenital scoliosis: a candidate gene approach.
- Published in:
- Human Genetics, 2005, v. 116, n. 5, p. 416, doi. 10.1007/s00439-005-1253-8
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- Publication type:
- Article
12
Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency.
- Published in:
- Human Genetics, 2005, v. 116, n. 5, p. 384, doi. 10.1007/s00439-005-1255-6
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- Publication type:
- Article
13
A large interstitial deletion encompassing theamelogeningene on the short arm of the Y chromosome.
- Published in:
- Human Genetics, 2005, v. 116, n. 5, p. 395, doi. 10.1007/s00439-004-1238-z
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- Publication type:
- Article
14
Array CGH detection of a cryptic deletion in a complex chromosome rearrangement.
- Published in:
- Human Genetics, 2005, v. 116, n. 5, p. 390, doi. 10.1007/s00439-004-1248-x
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- Publication type:
- Article
15
The 8818G allele of the agouti signaling protein (ASIP) gene is ancestral and is associated with darker skin color in African Americans.
- Published in:
- Human Genetics, 2005, v. 116, n. 5, p. 402, doi. 10.1007/s00439-004-1251-2
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- Publication type:
- Article
16
Genes and human elite athletic performance.
- Published in:
- Human Genetics, 2005, v. 116, n. 5, p. 331, doi. 10.1007/s00439-005-1261-8
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- Publication type:
- Article