Found: 23
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Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes.
- Published in:
- Human Mutation, 2009, v. 30, n. 9, p. 1355, doi. 10.1002/humu.21058
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- Publication type:
- Article
Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene.
- Published in:
- Human Mutation, 2009, v. 30, n. 9, p. 1292, doi. 10.1002/humu.21077
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- Publication type:
- Article
Toward the ideal 'Mutation Update' and 'Locus Specific Database' for disease genes.
- Published in:
- Human Mutation, 2009, v. 30, n. 9, p. v, doi. 10.1002/humu.21102
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- Publication type:
- Article
Deletions in the VPS13B ( COH1) gene as a cause of Cohen syndrome.
- Published in:
- Human Mutation, 2009, v. 30, n. 9, p. E845, doi. 10.1002/humu.21065
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- Publication type:
- Article
Extremely low risk of pheochromocytomas in complete VHL gene deletion cases.
- Published in:
- Human Mutation, 2009, v. 30, n. 9, p. 1365, doi. 10.1002/humu.21050
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- Publication type:
- Article
Copy-number variations (CNVs) of the human sex steroid metabolizing genes UGT2B17 and UGT2B28 and their associations with a UGT2B15 functional polymorphism.
- Published in:
- Human Mutation, 2009, v. 30, n. 9, p. 1310, doi. 10.1002/humu.21054
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- Publication type:
- Article
A survey of ABCA1 sequence variation confirms association with dementia.
- Published in:
- Human Mutation, 2009, v. 30, n. 9, p. 1348, doi. 10.1002/humu.21076
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- Publication type:
- Article
A splice site mutation combined with a novel missense mutation of LHCGR cause male pseudohermaphroditism.
- Published in:
- Human Mutation, 2009, v. 30, n. 9, p. E855, doi. 10.1002/humu.21072
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- Publication type:
- Article
Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with incontinentia pigmenti.
- Published in:
- Human Mutation, 2009, v. 30, n. 9, p. 1284, doi. 10.1002/humu.21069
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- Publication type:
- Article
Functional FEN1 polymorphisms are associated with DNA damage levels and lung cancer risk.
- Published in:
- Human Mutation, 2009, v. 30, n. 9, p. 1320, doi. 10.1002/humu.21060
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- Publication type:
- Article
A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance.
- Published in:
- Human Mutation, 2009, v. 30, n. 9, p. 1340, doi. 10.1002/humu.21071
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- Publication type:
- Article
A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy.
- Published in:
- 2009
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- Publication type:
- Other
The folliculin mutation database: An online database of mutations associated with Birt-Hogg-Dubé syndrome.
- Published in:
- 2009
- By:
- Publication type:
- Other
SNP-chips versus CNV patterns: Thinking outside the box.
- Published in:
- Human Mutation, 2009, v. 30, n. 9, p. v, doi. 10.1002/humu.21104
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- Publication type:
- Article
Sequence contexts that determine the pathogenicity of base substitutions at position +3 of donor splice-sites.
- Published in:
- Human Mutation, 2009, v. 30, n. 9, p. 1329, doi. 10.1002/humu.21070
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- Publication type:
- Article
Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H.
- Published in:
- Human Mutation, 2009, v. 30, n. 9, p. E831, doi. 10.1002/humu.21063
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- Publication type:
- Article
Measurement of admixture proportions and description of admixture structure in different U.S. populations.
- Published in:
- Human Mutation, 2009, v. 30, n. 9, p. 1299, doi. 10.1002/humu.21045
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- Publication type:
- Article
Molecular pathology of the fibroblast growth factor family.
- Published in:
- Human Mutation, 2009, v. 30, n. 9, p. 1245, doi. 10.1002/humu.21067
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- Publication type:
- Article
Response to: Extremely low risk of pheochromocytomas in complete VHL gene deletion cases.
- Published in:
- Human Mutation, 2009, v. 30, n. 9, p. 1367, doi. 10.1002/humu.21049
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- Publication type:
- Article
Defective protein trafficking: From craniofacial disease to congenital dyserythropoietic anemia.
- Published in:
- Human Mutation, 2009, v. 30, n. 9, p. v, doi. 10.1002/humu.21103
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- Publication type:
- Article
Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls.
- Published in:
- Human Mutation, 2009, v. 30, n. 9, p. E866, doi. 10.1002/humu.21073
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- Publication type:
- Article
The genetic basis of Brugada syndrome: A mutation update.
- Published in:
- 2009
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- Publication type:
- Other
Mutations and polymorphisms of the skeletal muscle α-actin gene ( ACTA1).
- Published in:
- 2009
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- Publication type:
- Other