Works matching IS 10184813 AND DT 2002 AND VI 10 AND IP 10
Results: 14
Evidence of a founder effect for the tissue-nonspecific alkaline phosphatase (TNSALP) gene E174K mutation in hypophosphatasia.
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 10, p. 666, doi. 10.1038/sj.ejhg.5200857
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- Publication type:
- Article
Physical map of an asthma susceptibility locus in 7p15-p14 and an association study of TCRG.
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 10, p. 658, doi. 10.1038/sj.ejhg.5200861
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- Publication type:
- Article
Clinical and biochemical characteristics and genotype-phenotype correlation in Finnish variegate porphyria patients.
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 10, p. 649, doi. 10.1038/sj.ejhg.5200860
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- Publication type:
- Article
DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG).
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 10, p. 643, doi. 10.1038/sj.ejhg.5200858
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- Publication type:
- Article
A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate.
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 10, p. 638, doi. 10.1038/sj.ejhg.5200856
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- Publication type:
- Article
De novo mutations in familial adenomatous polyposis (FAP).
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 10, p. 631, doi. 10.1038/sj.ejhg.5200853
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- Publication type:
- Article
Parametric and non-parametric linkage analysis of several candidate regions for genes for human handedness.
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 10, p. 621, doi. 10.1038/sj.ejhg.5200851
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- Publication type:
- Article
The impact of genotyping error on haplotype reconstruction and frequency estimation.
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 10, p. 616, doi. 10.1038/sj.ejhg.5200855
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- Publication type:
- Article
High resolution mapping of quantitative trait loci by linkage disequilibrium analysis.
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 10, p. 607, doi. 10.1038/sj.ejhg.5200843
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- Publication type:
- Article
Testing for BRCA1 mutations: a cost-effectiveness analysis.
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 10, p. 599, doi. 10.1038/sj.ejhg.5200854
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- Publication type:
- Article
Preimplantation genetic diagnosis for Huntington's disease with exclusion testing.
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 10, p. 591, doi. 10.1038/sj.ejhg.5200865
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- Publication type:
- Article
Demographics of the UK cystic fibrosis population: implications for neonatal screening.
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 10, p. 583, doi. 10.1038/sj.ejhg.5200850
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- Publication type:
- Article
LETTER.
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 10, p. 576
- Publication type:
- Article
New initiatives from EJHG, ESHG and Nature Publishing Group.
- Published in:
- 2002
- By:
- Publication type:
- Editorial