Works matching IS 09646906 AND DT 2000 AND VI 9 AND IP 10
Results: 11
Sexually dimorphic expression of protease nexin-1 and vanin-1 in the developing mouse gonad prior to overt differentiation suggests a role in mammalian sexual development.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 10, p. 1553, doi. 10.1093/hmg/9.10.1553
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- Article
Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients.
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- Human Molecular Genetics, 2000, v. 9, n. 10, p. 1501, doi. 10.1093/hmg/9.10.1501
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- Article
Genome search for susceptibility loci of common idiopathic generalised epilepsies.
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- Human Molecular Genetics, 2000, v. 9, n. 10, p. 1465, doi. 10.1093/hmg/9.10.1465
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- Article
The fragile X-related proteins FXR1P and FXR2P contain a functional nucleolar-targeting signal equivalent to the HIV-1 regulatory proteins.
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- Human Molecular Genetics, 2000, v. 9, n. 10, p. 1487, doi. 10.1093/hmg/9.10.1487
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- Article
The most frequent constitutional translocation in humans, the t(11;22)(q23;q11) is due to a highly specific Alu-mediated recombination.
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- Human Molecular Genetics, 2000, v. 9, n. 10, p. 1525, doi. 10.1093/hmg/9.10.1525
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- Article
Loss of DAL-1, a protein 4.1-related tumor suppressor, is an important early event in the pathogenesis of meningiomas.
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- Human Molecular Genetics, 2000, v. 9, n. 10, p. 1495, doi. 10.1093/hmg/9.10.1495
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- Article
Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome.
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- Human Molecular Genetics, 2000, v. 9, n. 10, p. 1473, doi. 10.1093/hmg/9.10.1473
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- Article
A candidate gene for psoriasis near HLA-C, HCR (Pg8), is highly polymorphic with a disease-associated susceptibility allele.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 10, p. 1533, doi. 10.1093/hmg/9.10.1533
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- Article
Restricted polymorphism of the mannose-binding lectin gene of indigenous Australians.
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- Human Molecular Genetics, 2000, v. 9, n. 10, p. 1481, doi. 10.1093/hmg/9.10.1481
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- Publication type:
- Article
A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 10, p. 1515, doi. 10.1093/hmg/9.10.1515
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- Article
The SCA8 transcript is an antisense RNA to a brain-specific transcript encoding a novel actin-binding protein (KLHL1).
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 10, p. 1543, doi. 10.1093/hmg/9.10.1543
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- Article