Works matching IS 09646906 AND DT 2005 AND VI 14 AND IP 17
Results: 13
USF1 and dyslipidemias: converging evidence for a functional intronic variant.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 17, p. 2595, doi. 10.1093/hmg/ddi294
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- Article
Mitochondrial DNA segregation in hematopoietic lineages does not depend on MHC presentation of mitochondrially encoded peptides.
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- Human Molecular Genetics, 2005, v. 14, n. 17, p. 2587, doi. 10.1093/hmg/ddi293
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- Article
Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin.
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- Human Molecular Genetics, 2005, v. 14, n. 17, p. 2571, doi. 10.1093/hmg/ddi292
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- Article
ER-associated protein degradation is a common mechanism underpinning numerous monogenic diseases including Robinow syndrome.
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- Human Molecular Genetics, 2005, v. 14, n. 17, p. 2559, doi. 10.1093/hmg/ddi259
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- Article
Rhodopsin maturation defects induce photoreceptor death by apoptosis: a fly model for Rhodopsin<sup>Pro23His</sup> human retinitis pigmentosa.
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- Human Molecular Genetics, 2005, v. 14, n. 17, p. 2547, doi. 10.1093/hmg/ddi258
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- Article
Analysis of intronic conserved elements indicates that functional complexity might represent a major source of negative selection on non-coding sequences.
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- Human Molecular Genetics, 2005, v. 14, n. 17, p. 2533, doi. 10.1093/hmg/ddi257
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- Article
CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesis.
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- Human Molecular Genetics, 2005, v. 14, n. 17, p. 2521, doi. 10.1093/hmg/ddi256
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- Article
Neuron-specific relaxation of Igf2r imprinting is associated with neuron-specific histone modifications and lack of its antisense transcript Air.
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- Human Molecular Genetics, 2005, v. 14, n. 17, p. 2511, doi. 10.1093/hmg/ddi255
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- Article
A dinucleotide deletion in the ankyrin promoter alters gene expression, transcription initiation and TFIID complex formation in hereditary spherocytosis.
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- Human Molecular Genetics, 2005, v. 14, n. 17, p. 2501, doi. 10.1093/hmg/ddi254
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- Article
Interpreting gene-association studies.
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- Human Molecular Genetics, 2005, v. 14, n. 17, p. 2489, doi. 10.1093/hmg/ddi253
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- Article
Guidelines for conducting and reporting whole genome/large-scale association studies.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 17, p. 2485, doi. 10.1093/hmg/ddi252
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- Article
Guidelines for association studies in Human Molecular Genetics.
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- Human Molecular Genetics, 2005, v. 14, n. 17, p. 2481, doi. 10.1093/hmg/ddi251
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- Publication type:
- Article
Sacred disease secrets revealed: the genetics of human epilepsy.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 17, p. 2491, doi. 10.1093/hmg/ddi250
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- Article