Works matching IS 10597794 AND DT 2003 AND VI 21 AND IP 1
Results: 20
Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.
- Published in:
- Human Mutation, 2003, v. 21, n. 1, p. 100, doi. 10.1002/humu.9101
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- Publication type:
- Article
Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?
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- Human Mutation, 2003, v. 21, n. 1, p. 45, doi. 10.1002/humu.10145
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- Publication type:
- Article
Evaluation of Cx26/GJB2 in German hearing impaired persons: mutation spectrum and detection of disequilibrium between M34T (c.101T>C) and -493del10.
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- Human Mutation, 2003, v. 21, n. 1, p. 98, doi. 10.1002/humu.9098
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- Publication type:
- Article
ATM mutations on distinct SNP and STR haplotypes in ataxia-telangiectasia patients of differing ethnicities reveal ancestral founder effects.
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- Human Mutation, 2003, v. 21, n. 1, p. 80, doi. 10.1002/humu.10156
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- Article
Mutation scanning by ion-pair reversed-phase high-performance liquid chromatography-electrospray ionization mass spectrometry (ICEMS).
- Published in:
- 2003
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- Publication type:
- Other
Erratum: Detection of C1 inhibitor (SERPING1/C1NH) mutations in exon 8 in patients with hereditary angioedema: evidence for 10 novel mutations.
- Published in:
- Human Mutation, 2003, v. 21, n. 1, p. 102, doi. 10.1002/humu.9105
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- Publication type:
- Article
Dynamics of CAG repeat loci revealed by the analysis of their variability.
- Published in:
- Human Mutation, 2003, v. 21, n. 1, p. 61, doi. 10.1002/humu.10151
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- Publication type:
- Article
A higher-impact Human Mutation launches web-based submission/peer review and EarlyView rapid publication.
- Published in:
- Human Mutation, 2003, v. 21, n. 1, p. 1, doi. 10.1002/humu.10162
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- Publication type:
- Article
eMelanoBase: An online locus-specific variant database for familial melanoma.
- Published in:
- Human Mutation, 2003, v. 21, n. 1, p. 2, doi. 10.1002/humu.10149
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- Publication type:
- Article
MEFV sequence variants and amyloidosis: still an enigmatic question.
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- Human Mutation, 2003, v. 21, n. 1, p. 96, doi. 10.1002/humu.10137
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- Publication type:
- Article
Further evidence for role of a promoter variant in the TNFRSF6 gene in Alzheimer disease.
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- Human Mutation, 2003, v. 21, n. 1, p. 53, doi. 10.1002/humu.10148
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- Publication type:
- Article
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.
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- Human Mutation, 2003, v. 21, n. 1, p. 99, doi. 10.1002/humu.9100
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- Publication type:
- Article
Splice mutations in the p53 gene: case report and review of the literature.
- Published in:
- Human Mutation, 2003, v. 21, n. 1, p. 101, doi. 10.1002/humu.9104
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- Publication type:
- Article
Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKγ dene deletion.
- Published in:
- Human Mutation, 2003, v. 21, n. 1, p. 8, doi. 10.1002/humu.10150
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- Publication type:
- Article
Direct estimates of human per nucleotide mutation rates at 20 loci causing mendelian diseases.
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- Human Mutation, 2003, v. 21, n. 1, p. 12, doi. 10.1002/humu.10147
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- Publication type:
- Article
Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian Malays.
- Published in:
- Human Mutation, 2003, v. 21, n. 1, p. 101, doi. 10.1002/humu.9103
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- Publication type:
- Article
The mutational spectrum of human autosomal tetranucleotide microsatellites.
- Published in:
- Human Mutation, 2003, v. 21, n. 1, p. 71, doi. 10.1002/humu.10153
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- Publication type:
- Article
Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity.
- Published in:
- Human Mutation, 2003, v. 21, n. 1, p. 28, doi. 10.1002/humu.10146
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- Publication type:
- Article
BRCA1 germline mutations in Indian familial breast cancer.
- Published in:
- Human Mutation, 2003, v. 21, n. 1, p. 98, doi. 10.1002/humu.9099
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- Publication type:
- Article
Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome.
- Published in:
- Human Mutation, 2003, v. 21, n. 1, p. 100, doi. 10.1002/humu.9102
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- Publication type:
- Article