Works matching IS 10597794 AND DT 2003 AND VI 22 AND IP 6
Results: 20
NDP gene mutations in 14 French families with Norrie disease(Communicated by Andreas Gal)Online Citation: Human Mutation, Mutation in Brief #675 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/675.pdf).
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- Human Mutation, 2003, v. 22, n. 6, p. 499, doi. 10.1002/humu.9204
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- Article
Erratum: mutational screening of the RB1 gene in Indian patients with retinoblastoma reveals eight novel and several recurrent mutations (Communicated by Nobuyoshi Shimizu)Online Citation: Human Mutation, Mutation in Brief #667 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/667.pdf)
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- 2003
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- Erratum
Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot.
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- 2003
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- Erratum
Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France(Communicated by Mark H. Paalman)Online Citation: Human Mutation, Mutation in Brief #668 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/668.pdf)
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- Human Mutation, 2003, v. 22, n. 6, p. 496, doi. 10.1002/humu.9197
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- Article
DHPLC analysis of potassium ion channel genes in congenital long QT syndrome.
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- 2003
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- Publication type:
- Erratum
POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions(Communicated by Christine van Broeckhoven)Online Citation: Human Mutation, Mutation in Brief #674 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/674.pdf)
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- Human Mutation, 2003, v. 22, n. 6, p. 498, doi. 10.1002/humu.9203
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- Article
Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema(Communicated by Mark H. Paalman)Online Citation: Human Mutation, Mutation in Brief #673 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/673.pdf)
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- Human Mutation, 2003, v. 22, n. 6, p. 498, doi. 10.1002/humu.9202
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- Article
Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A(Communicated by Henrik Dahl).
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- Human Mutation, 2003, v. 22, n. 6, p. 457, doi. 10.1002/humu.10287
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- Article
Detailed analysis of five mutations in dihydropyrimidine dehydrogenase detected in cancer patients with 5-fluorouracil-related side effects(Communicated by Mark H. Paalman)Online Citation: Human Mutation, Mutation in Brief #672 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/672.pdf)
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- Human Mutation, 2003, v. 22, n. 6, p. 498, doi. 10.1002/humu.9201
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- Article
Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2(Communicated by Linda Tyfield)Online Citation: Human Mutation, Mutation in Brief #671 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/671.pdf)
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- Human Mutation, 2003, v. 22, n. 6, p. 497, doi. 10.1002/humu.9200
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- Article
Diagnostics in patients with glutathione synthetase deficiency but without mutations in the exons of the GSS gene(Communicated by Arnold Munnich)Online Citation: Human Mutation, Mutation in Brief #670 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/670.pdf)
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- Human Mutation, 2003, v. 22, n. 6, p. 497, doi. 10.1002/humu.9199
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- Article
A pathogenic glutamate-to-aspartate substitution (D296E) in the pyruvate dehydrogenase E1 subunit gene PDHA1(Communicated by Bruce Gottlieb)Online Citation: Human Mutation, Mutation in Brief #669 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/669.pdf)
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- Human Mutation, 2003, v. 22, n. 6, p. 496, doi. 10.1002/humu.9198
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- Article
Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: Identification of novel and recurrent deletions by MLPA(Communicated by Richard Cotton).
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- Human Mutation, 2003, v. 22, n. 6, p. 428, doi. 10.1002/humu.10291
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- Article
Cystathionine β-synthase deficiency in Georgia (USA): Correlation of clinical and biochemical phenotype with genotype(Communicated by Jan Kraus).
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- Human Mutation, 2003, v. 22, n. 6, p. 434, doi. 10.1002/humu.10290
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- Article
CYP2D6 genotyping strategy based on gene copy number determination by TaqMan real-rime PCR(Communicated by Pui-Yan Kwok).
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- Human Mutation, 2003, v. 22, n. 6, p. 476, doi. 10.1002/humu.10280
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- Article
Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency(Communicated by Johannes Zschocke).
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- Human Mutation, 2003, v. 22, n. 6, p. 442, doi. 10.1002/humu.10288
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- Article
Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF)(Communicated by Xavier Estivill).
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- Human Mutation, 2003, v. 22, n. 6, p. 451
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- Article
Bridging structural biology and genetics by computational methods: An investigation into how the R774C mutation in the AR gene can result in complete androgen insensitivity syndrome(Richard G. H. Cotton).
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- Human Mutation, 2003, v. 22, n. 6, p. 465, doi. 10.1002/humu.10279
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- Article
Fabry disease: Characterization of α-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele(Communicated by William Sly).
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- Human Mutation, 2003, v. 22, n. 6, p. 486, doi. 10.1002/humu.10275
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- Article
Somatic NF1 mutation spectra in a family with neurofibromatosis type 1: Toward a theory of genetic modifiers(Communicated by Jürgen Horst).
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- Human Mutation, 2003, v. 22, n. 6, p. 423, doi. 10.1002/humu.10272
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- Article