Works matching IS 09646906 AND DT 2009 AND VI 18 AND IP 19
Results: 24
Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses.
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- Human Molecular Genetics, 2009, v. 18, n. 19, p. 3684, doi. 10.1093/hmg/ddp316
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- Article
Upregulation of PKD1L2 provokes a complex neuromuscular disease in the mouse.
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- Human Molecular Genetics, 2009, v. 18, n. 19, p. 3553, doi. 10.1093/hmg/ddp304
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- Article
Protein kinase Cγ, a protein causative for dominant ataxia, negatively regulates nuclear import of recessive-ataxia-related aprataxin.
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- Human Molecular Genetics, 2009, v. 18, n. 19, p. 3533, doi. 10.1093/hmg/ddp298
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- Article
Antagonistic SR proteins regulate alternative splicing of tumor-related Rac1b downstream of the PI3-kinase and Wnt pathways.
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- Human Molecular Genetics, 2009, v. 18, n. 19, p. 3696
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- Article
Identification of novel susceptibility loci for Guam neurodegenerative disease: challenges of genome scans in genetic isolates.
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- Human Molecular Genetics, 2009, v. 18, n. 19, p. 3725, doi. 10.1093/hmg/ddp300
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- Article
Elucidation of the complex structure and origin of the human trypsinogen locus triplication.
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- Human Molecular Genetics, 2009, v. 18, n. 19, p. 3605, doi. 10.1093/hmg/ddp308
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- Article
Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms.
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- Human Molecular Genetics, 2009, v. 18, n. 19, p. 3673, doi. 10.1093/hmg/ddp315
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- Article
Inactive X chromosome-specific reduction in placental DNA methylation.
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- Human Molecular Genetics, 2009, v. 18, n. 19, p. 3544, doi. 10.1093/hmg/ddp299
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- Article
Rac1 and Rho contribute to the migratory and invasive phenotype associated with somatic E-cadherin mutation.
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- Human Molecular Genetics, 2009, v. 18, n. 19, p. 3632, doi. 10.1093/hmg/ddp312
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- Article
Cover Page.
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- Human Molecular Genetics, 2009, v. 18, n. 19, p. NP, doi. 10.1093/hmg/ddp375
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- Article
Pantothenate kinase-associated neurodegeneration: insights from a Drosophila model.
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- Human Molecular Genetics, 2009, v. 18, n. 19, p. 3659
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- Article
Contents Page.
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- Human Molecular Genetics, 2009, v. 18, n. 19, p. NP, doi. 10.1093/hmg/ddp374
- Publication type:
- Article
Identification of a new putative functional IL18 gene variant through an association study in systemic lupus erythematosus.
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- Human Molecular Genetics, 2009, v. 18, n. 19, p. 3739, doi. 10.1093/hmg/ddp301
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- Article
Generation of an epigenetic signature by chronic hypoxia in prostate cells.
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- Human Molecular Genetics, 2009, v. 18, n. 19, p. 3594, doi. 10.1093/hmg/ddp307
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- Article
Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.
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- Human Molecular Genetics, 2009, v. 18, n. 19, p. 3579, doi. 10.1093/hmg/ddp306
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- Article
A genome-wide association study of acenocoumarol maintenance dosage.
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- Human Molecular Genetics, 2009, v. 18, n. 19, p. 3758, doi. 10.1093/hmg/ddp309
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- Article
Editorial Board.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 19, p. NP, doi. 10.1093/hmg/ddp376
- Publication type:
- Article
A functional genetic study identifies HAND1 mutations in septation defects of the human heart.
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- Human Molecular Genetics, 2009, v. 18, n. 19, p. 3567, doi. 10.1093/hmg/ddp305
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- Article
LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate.
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- Human Molecular Genetics, 2009, v. 18, n. 19, p. 3645, doi. 10.1093/hmg/ddp313
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- Article
Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice.
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- Human Molecular Genetics, 2009, v. 18, n. 19, p. 3708, doi. 10.1093/hmg/ddp318
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- Article
Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance.
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- Human Molecular Genetics, 2009, v. 18, n. 19, p. 3626
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- Article
Subscription Page.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 19, p. NP, doi. 10.1093/hmg/ddp377
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- Article
Zebrafish survival motor neuron mutants exhibit presynaptic neuromuscular junction defects.
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- Human Molecular Genetics, 2009, v. 18, n. 19, p. 3615, doi. 10.1093/hmg/ddp310
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- Article
Quantitative trait loci predicting circulating sex steroid hormones in men from the NCI-Breast and Prostate Cancer Cohort Consortium (BPC3).
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- Human Molecular Genetics, 2009, v. 18, n. 19, p. 3749, doi. 10.1093/hmg/ddp302
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- Article