Works matching IS 09646906 AND DT 2003 AND VI 12 AND IP 10
Results: 13
Restoration of dystrophin expression in mdx muscle cells by chimeraplast-mediated exon skipping.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 10, p. 1087, doi. 10.1093/hmg/ddg133
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- Publication type:
- Article
A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 10, p. 1171, doi. 10.1093/hmg/ddg121
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- Article
FOXC2 haploinsufficient mice are a model for human autosomal dominant lymphedema-distichiasis syndrome.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 10, p. 1179, doi. 10.1093/hmg/ddg123
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- Publication type:
- Article
Identification of a novel lipase gene mutated in lpd mice with hypertriglyceridemia and associated with dyslipidemia in humans.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 10, p. 1131, doi. 10.1093/hmg/ddg124
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- Article
Congenital hydrocephalus in hy3 mice is caused by a frameshift mutation in Hydin, a large novel gene.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 10, p. 1163, doi. 10.1093/hmg/ddg122
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- Publication type:
- Article
Genome-wide linkage analysis of bronchodilator responsiveness and post-bronchodilator spirometric phenotypes in chronic obstructive pulmonary disease.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 10, p. 1199, doi. 10.1093/hmg/ddg125
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- Publication type:
- Article
A very long-chain acyl-CoA synthetase-deficient mouse and its relevance to X-linked adrenoleukodystrophy.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 10, p. 1145, doi. 10.1093/hmg/ddg126
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- Publication type:
- Article
Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 10, p. 1155, doi. 10.1093/hmg/ddg127
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- Publication type:
- Article
Genetic dissection of anxiety in autoimmune disease.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 10, p. 1079, doi. 10.1093/hmg/ddg128
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- Publication type:
- Article
Functional polymorphisms in the paternally expressed XLαs and its cofactor ALEX decrease their mutual interaction and enhance receptor-mediated cAMP formation.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 10, p. 1121, doi. 10.1093/hmg/ddg130
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- Publication type:
- Article
Molecular mechanisms underlying limb anomalies associated with cholesterol deficiency during gestation: implications of Hedgehog signaling.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 10, p. 1187, doi. 10.1093/hmg/ddg129
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- Publication type:
- Article
Association of a functional 17β-estradiol sensitive IL6-174G/C promoter polymorphism with early-onset type 1 diabetes in females.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 10, p. 1101, doi. 10.1093/hmg/ddg132
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- Publication type:
- Article
New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 10, p. 1111, doi. 10.1093/hmg/ddg131
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- Publication type:
- Article