Works matching IS 09646906 AND DT 2006 AND VI 15 AND IP 16
Results: 12
A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 16, p. 2533, doi. 10.1093/hmg/ddl174
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- Article
Ataxin-2 and its Drosophila homolog, ATX2, physically assemble with polyribosomes.
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- Human Molecular Genetics, 2006, v. 15, n. 16, p. 2523, doi. 10.1093/hmg/ddl173
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- Article
Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 16, p. 2509, doi. 10.1093/hmg/ddl172
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- Article
An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers.
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- Human Molecular Genetics, 2006, v. 15, n. 16, p. 2490, doi. 10.1093/hmg/ddl171
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- Article
Pathology and nuclear abnormalities in hearts of transgenic mice expressing M371K lamin A encoded by an LMNA mutation causing Emery–Dreifuss muscular dystrophy.
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- Human Molecular Genetics, 2006, v. 15, n. 16, p. 2479, doi. 10.1093/hmg/ddl170
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- Article
Phosphodiesterase 4D polymorphisms and the risk of cerebral infarction in a biracial population: the Stroke Prevention in Young Women Study.
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- Human Molecular Genetics, 2006, v. 15, n. 16, p. 2468, doi. 10.1093/hmg/ddl169
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- Article
Cardiac malformations and midline skeletal defects in mice lacking filamin A.
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- Human Molecular Genetics, 2006, v. 15, n. 16, p. 2457, doi. 10.1093/hmg/ddl168
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- Article
P2RX7, a gene coding for a purinergic ligand-gated ion channel, is associated with major depressive disorder.
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- Human Molecular Genetics, 2006, v. 15, n. 16, p. 2438, doi. 10.1093/hmg/ddl166
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- Article
Nf1+/− mast cells induce neurofibroma like phenotypes through secreted TGF-β signaling.
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- Human Molecular Genetics, 2006, v. 15, n. 16, p. 2421, doi. 10.1093/hmg/ddl165
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- Article
Ataxin-3 binds VCP/p97 and regulates retrotranslocation of ERAD substrates.
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- Human Molecular Genetics, 2006, v. 15, n. 16, p. 2409, doi. 10.1093/hmg/ddl164
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- Article
Polymorphisms of estrogen-biosynthesis genes CYP17 and CYP19 may influence age at menarche: a genetic association study in Caucasian females.
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- Human Molecular Genetics, 2006, v. 15, n. 16, p. 2401, doi. 10.1093/hmg/ddl155
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- Article
A functional polymorphism within plasminogen activator urokinase (PLAU) is associated with Alzheimer's disease.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 16, p. 2446, doi. 10.1093/hmg/ddl167
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- Article