Works matching IS 03406717 AND DT 2000 AND VI 106 AND IP 3
Results: 20
A 3D model of human P450c21: study of the putative effects of steroid 21-hydroxylase gene mutations.
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- Human Genetics, 2000, v. 106, n. 3, p. 330, doi. 10.1007/s004390051046
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- Article
Identification of 142 single nucleotide polymorphisms in 41 candidate genes for rheumatoid arthritis in the Japanese population.
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- Human Genetics, 2000, v. 106, n. 3, p. 293, doi. 10.1007/s004390000248
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- Article
British Human Genetics Conference¶Including a One-Day Joint Symposium "Technologics in Genome Analysis" with the Genetical Society on Wednesday 13 September : 11-13 September 2000, University of York, UK.
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- Human Genetics, 2000, v. 106, n. 3, p. 383, doi. 10.1007/s004390051054
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- Article
A fragile X case with an amplification/deletion mosaic pattern.
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- Human Genetics, 2000, v. 106, n. 3, p. 366, doi. 10.1007/s004390000256
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Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five novel mutations (W1098C, 846delT, P750L, 4160insGGGG and 297–1G→A).
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- Human Genetics, 2000, v. 106, n. 3, p. 360, doi. 10.1007/s004390051051
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Parental origin of the extra chromosome in prenatally diagnosed fetal trisomy 21.
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- Human Genetics, 2000, v. 106, n. 3, p. 340, doi. 10.1007/s004390051047
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Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection.
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- Human Genetics, 2000, v. 106, n. 3, p. 370, doi. 10.1007/s004390051053
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Segregation analysis of serum uric acid in the NHLBI Family Heart Study.
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- Human Genetics, 2000, v. 106, n. 3, p. 355, doi. 10.1007/s004390051050
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- Article
Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs.
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- Human Genetics, 2000, v. 106, n. 3, p. 345, doi. 10.1007/s004390051048
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- Article
A 3D model of human P450c21: study of the putative effects of steroid 21-hydroxylase gene mutations.
- Published in:
- Human Genetics, 2000, v. 106, n. 3, p. 330, doi. 10.1007/s004390051046
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- Publication type:
- Article
The spectrum of mutations in erythrokeratodermias – novel and de novo mutations in GJB3.
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- Human Genetics, 2000, v. 106, n. 3, p. 321, doi. 10.1007/s004390051045
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- Article
Association between M467T and 114 C→A variants within the SLC3A1 gene and some phenotypical traits in cystinuria patients from Spain.
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- Human Genetics, 2000, v. 106, n. 3, p. 314, doi. 10.1007/s004390000251
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Illegitimate splicing of the NF1 gene in healthy individuals mimics mutation-induced splicing alterations in NF1 patients.
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- Human Genetics, 2000, v. 106, n. 3, p. 311, doi. 10.1007/s004390000249
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- Article
SOX14 is a candidate gene for limb defects associated with BPES and Möbius syndrome.
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- Human Genetics, 2000, v. 106, n. 3, p. 269, doi. 10.1007/s004390051037
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- Article
Del(X)(p21.1) in a mother and two daughters: genotype-phenotype correlation of Turner features.
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- Human Genetics, 2000, v. 106, n. 3, p. 306, doi. 10.1007/s004390051042
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Human glycine decarboxylase gene (GLDC) and its highly conserved processed pseudogene (ψGLDC): their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia.
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- Human Genetics, 2000, v. 106, n. 3, p. 298, doi. 10.1007/s004390051041
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- Article
Identification of 187 single nucleotide polymorphisms (SNPs) among 41 candidate genes for ischemic heart disease in the Japanese population.
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- Human Genetics, 2000, v. 106, n. 3, p. 288, doi. 10.1007/s004390051039
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- Article
Identification of a gene disrupted by inv(11)(q13.5;q25) in a patient with left-right axis malformation.
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- Human Genetics, 2000, v. 106, n. 3, p. 277, doi. 10.1007/s004390051038
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- Article
Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe.
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- Human Genetics, 2000, v. 106, n. 3, p. 259, doi. 10.1007/s004390000246
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Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22.
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- Human Genetics, 2000, v. 106, n. 3, p. 351, doi. 10.1007/s004390051049
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- Article