Works matching IS 10597794 AND DT 2010 AND VI 31 AND IP 10
Results: 18
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.
- Published in:
- Human Mutation, 2010, v. 31, n. 10, p. E1709, doi. 10.1002/humu.21336
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- Publication type:
- Article
High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy.
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- Human Mutation, 2010, v. 31, n. 10, p. 1134, doi. 10.1002/humu.21329
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- Article
LSDBs: Promise and Challenges.
- Published in:
- Human Mutation, 2010, v. 31, n. 10, p. v, doi. 10.1002/humu.21369
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- Publication type:
- Article
Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.
- Published in:
- Human Mutation, 2010, v. 31, n. 10, p. 1117, doi. 10.1002/humu.21342
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- Publication type:
- Article
On genomic DNA paradigms, research publications, and scholarly inquiry.
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- Human Mutation, 2010, v. 31, n. 10, p. 1089, doi. 10.1002/humu.21353
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- Article
BAK1 gene variation and abdominal aortic aneurysms-results may have been prematurely overrated.
- Published in:
- Human Mutation, 2010, v. 31, n. 10, p. 1174, doi. 10.1002/humu.21324
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- Publication type:
- Article
Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2.
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- Human Mutation, 2010, v. 31, n. 10, p. 1125, doi. 10.1002/humu.21335
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- Article
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
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- Human Mutation, 2010, v. 31, n. 10, p. 1142, doi. 10.1002/humu.21328
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- Publication type:
- Article
Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex.
- Published in:
- Human Mutation, 2010, v. 31, n. 10, p. E1687, doi. 10.1002/humu.21330
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- Publication type:
- Article
A Rare Novel Tyrosine Hydroxylase Gene Deletion in Parkinson Disease.
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- Human Mutation, 2010, v. 31, n. 10, p. v, doi. 10.1002/humu.21370
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- Publication type:
- Article
A response to: BAK1 gene variation and abdominal aortic aneurysms-results may have been prematurely overrated. Questions of sequence fidelity, intraorganismal genetic heterogeneity, the nature of pseudogenes, and RNA editing.
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- Human Mutation, 2010, v. 31, n. 10, p. 1177, doi. 10.1002/humu.21323
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- Publication type:
- Article
Mutations in GDF5 presenting as semidominant brachydactyly A1.
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- Human Mutation, 2010, v. 31, n. 10, p. 1155, doi. 10.1002/humu.21338
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- Publication type:
- Article
Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions.
- Published in:
- Human Mutation, 2010, v. 31, n. 10, p. 1163, doi. 10.1002/humu.21340
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- Publication type:
- Article
A rare novel deletion of the tyrosine hydroxylase gene in Parkinson disease.
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- Human Mutation, 2010, v. 31, n. 10, p. E1767, doi. 10.1002/humu.21351
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- Publication type:
- Article
Lynch syndrome-associated mutations in MSH2 alter DNA repair and checkpoint response functions in vivo.
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- Human Mutation, 2010, v. 31, n. 10, p. E1699, doi. 10.1002/humu.21333
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- Publication type:
- Article
ABCA12 mutations and autosomal recessive congenital ichthyosis: A review of genotype/phenotype correlations and of pathogenetic concepts.
- Published in:
- 2010
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- Publication type:
- Other
CEP290, a gene with many faces: mutation overview and presentation of CEP290 base.
- Published in:
- 2010
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- Publication type:
- Other
Locus-specific database domain and data content analysis: evolution and content maturation toward clinical use.
- Published in:
- 2010
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- Publication type:
- Other