Works matching IS 09646906 AND DT 2003 AND VI 12 AND IP 5
Results: 13
Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 5, p. 583, doi. 10.1093/hmg/12.5.583
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- Article
Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms.
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- Human Molecular Genetics, 2003, v. 12, n. 5, p. 561, doi. 10.1093/hmg/ddg057
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- Article
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.
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- Human Molecular Genetics, 2003, v. 12, n. 5, p. 463, doi. 10.1093/hmg/ddg051
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- Article
A mouse model for hereditary hemorrhagic telangiectasia (HHT) type 2.
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- Human Molecular Genetics, 2003, v. 12, n. 5, p. 473, doi. 10.1093/hmg/ddg050
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- Article
The voltage-gated potassium channel Kv1.3 regulates energy homeostasis and body weight.
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- Human Molecular Genetics, 2003, v. 12, n. 5, p. 551
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- Article
Worldwide distribution and broader clinical spectrum of muscle–eye–brain disease.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 5, p. 527, doi. 10.1093/hmg/ddg043
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- Article
Defective integrin switch and matrix composition at alpha 7-deficient myotendinous junctions precede the onset of muscular dystrophy in mice.
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- Human Molecular Genetics, 2003, v. 12, n. 5, p. 483, doi. 10.1093/hmg/ddg047
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- Article
Loss of imprinting of IGF2 and H19 in osteosarcoma is accompanied by reciprocal methylation changes of a CTCF-binding site.
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- Human Molecular Genetics, 2003, v. 12, n. 5, p. 535, doi. 10.1093/hmg/ddg034
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A major locus on mouse chromosome 18 controls XX sex reversal in Odd Sex (Ods) mice.
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- Human Molecular Genetics, 2003, v. 12, n. 5, p. 509, doi. 10.1093/hmg/ddg045
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- Article
Parkin prevents mitochondrial swelling and cytochrome c release in mitochondria-dependent cell death.
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- Human Molecular Genetics, 2003, v. 12, n. 5, p. 517, doi. 10.1093/hmg/ddg044
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- Article
Identification of CDH1 germline missense mutations associated with functional inactivation of the E-cadherin protein in young gastric cancer probands.
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- Human Molecular Genetics, 2003, v. 12, n. 5, p. 575, doi. 10.1093/hmg/ddg048
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- Article
Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice.
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- Human Molecular Genetics, 2003, v. 12, n. 5, p. 453, doi. 10.1093/hmg/ddg042
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- Article
Specific progressive cAMP reduction implicates energy deficit in presymptomatic Huntington's disease knock-in mice.
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- Human Molecular Genetics, 2003, v. 12, n. 5, p. 497, doi. 10.1093/hmg/ddg046
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- Article