Works matching IS 10597794 AND DT 2009 AND VI 30 AND IP 6
Results: 25
Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS).
- Published in:
- Human Mutation, 2009, v. 30, n. 6, p. 995, doi. 10.1002/humu.21000
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- Publication type:
- Article
Mutation-specific database and bioinformatics resource for DMD.
- Published in:
- 2009
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- Publication type:
- Other
Molecular neonatal screening for homocystinuria in the Qatari population.
- Published in:
- Human Mutation, 2009, v. 30, n. 6, p. 1021, doi. 10.1002/humu.20994
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- Article
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.
- Published in:
- 2009
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- Publication type:
- Other
Quantitative PCR high-resolution melting (qPCR-HRM) curve analysis, a new approach to simultaneously screen point mutations and large rearrangements: application to MLH1 germline mutations in Lynch syndrome.
- Published in:
- Human Mutation, 2009, v. 30, n. 6, p. 867, doi. 10.1002/humu.20947
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- Publication type:
- Article
Diagnostic guidelines for high-resolution melting curve (HRM) analysis: An interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner™.
- Published in:
- Human Mutation, 2009, v. 30, n. 6, p. 899, doi. 10.1002/humu.21004
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- Publication type:
- Article
Novel mutations of the suppressor gene PTEN in colorectal carcinomas stratified by microsatellite instability- and TP53 mutation- status.
- Published in:
- Human Mutation, 2009, v. 30, n. 6, p. 1023, doi. 10.1002/humu.21048
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- Publication type:
- Article
Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: α-glucosaminide N-acetyltransferase ( HGSNAT) gene.
- Published in:
- 2009
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- Publication type:
- Other
High-Resolution Melting Analysis (HRMA)-More than just sequence variant screening.
- Published in:
- Human Mutation, 2009, v. 30, n. 6, p. 860, doi. 10.1002/humu.21019
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- Article
Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.
- Published in:
- 2009
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- Publication type:
- Other
Identifying sequence variants in the human mitochondrial genome using high-resolution melt (HRM) profiling.
- Published in:
- Human Mutation, 2009, v. 30, n. 6, p. 891, doi. 10.1002/humu.21003
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- Publication type:
- Article
UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity-application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2.
- Published in:
- 2009
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- Publication type:
- Other
IBDfinder and SNPsetter: Tools for pedigree-independent identification of autozygous regions in individuals with recessive inherited disease.
- Published in:
- 2009
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- Publication type:
- Other
Functional analyses of human and zebrafish 18-amino acid in-frame deletion pave the way for domain mapping of the cerebral cavernous malformation 3 protein.
- Published in:
- Human Mutation, 2009, v. 30, n. 6, p. 1003, doi. 10.1002/humu.20996
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- Publication type:
- Article
A novel mutation in CD40 and its functional characterization.
- Published in:
- Human Mutation, 2009, v. 30, n. 6, p. 985, doi. 10.1002/humu.20967
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- Publication type:
- Article
COLdb, a database linking genetic data to molecular function in fibrillar collagens.
- Published in:
- 2009
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- Publication type:
- Other
Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis.
- Published in:
- Human Mutation, 2009, v. 30, n. 6, p. 884, doi. 10.1002/humu.20949
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- Publication type:
- Article
Mosaic mutation detection: finding the rare ones.
- Published in:
- 2009
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- Publication type:
- Other
Parallel sequencing used in detection of mosaic mutations: Comparison with four diagnostic DNA screening techniques.
- Published in:
- Human Mutation, 2009, v. 30, n. 6, p. 1012, doi. 10.1002/humu.20980
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- Publication type:
- Article
High-resolution DNA melting analysis: advancements and limitations.
- Published in:
- Human Mutation, 2009, v. 30, n. 6, p. 857, doi. 10.1002/humu.20951
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- Article
Fishing for domains of the CCM3 protein.
- Published in:
- 2009
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- Publication type:
- Other
An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica.
- Published in:
- 2009
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- Publication type:
- Other
Assessing high-resolution melt curve analysis for accurate detection of gene variants in complex DNA fragments.
- Published in:
- Human Mutation, 2009, v. 30, n. 6, p. 876, doi. 10.1002/humu.20919
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- Publication type:
- Article
Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit ( GNPTG) gene in patients with mucolipidosis III gamma.
- Published in:
- Human Mutation, 2009, v. 30, n. 6, p. 978, doi. 10.1002/humu.20959
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- Publication type:
- Article
The phenotype and genotype experiment object model (PaGE-OM): a robust data structure for information related to DNA variation.
- Published in:
- 2009
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- Publication type:
- Other