Works matching IS 09646906 AND DT 2012 AND VI 21 AND IP 19
Results: 23
Subscription Page.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 19, p. NP, doi. 10.1093/hmg/dds330
- Publication type:
- Article
Cover Page.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 19, p. NP, doi. 10.1093/hmg/dds328
- Publication type:
- Article
Editorial Board.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 19, p. NP, doi. 10.1093/hmg/dds329
- Publication type:
- Article
Hypoxia is a modifier of SMN2 splicing and disease severity in a severe SMA mouse model.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 19, p. 4301, doi. 10.1093/hmg/dds263
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- Publication type:
- Article
Contents Page.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 19, p. NP, doi. 10.1093/hmg/dds327
- Publication type:
- Article
Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 19, p. 4366, doi. 10.1093/hmg/dds291
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- Publication type:
- Article
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 19, p. 4151, doi. 10.1093/hmg/dds123
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- Publication type:
- Article
Transcription initiation arising from E-cadherin/CDH1 intron2: a novel protein isoform that increases gastric cancer cell invasion and angiogenesis†.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 19, p. 4253, doi. 10.1093/hmg/dds248
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- Publication type:
- Article
G2019S leucine-rich repeat kinase 2 causes uncoupling protein-mediated mitochondrial depolarization.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 19, p. 4201, doi. 10.1093/hmg/dds244
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- Publication type:
- Article
Abnormal p38α mitogen-activated protein kinase signaling in dilated cardiomyopathy caused by lamin A/C gene mutation.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 19, p. 4325, doi. 10.1093/hmg/dds265
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- Publication type:
- Article
A polyglutamine expansion disease protein sequesters PTIP to attenuate DNA repair and increase genomic instability.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 19, p. 4225, doi. 10.1093/hmg/dds246
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- Publication type:
- Article
The 420K LEKTI variant alters LEKTI proteolytic activation and results in protease deregulation: implications for atopic dermatitis.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 19, p. 4187, doi. 10.1093/hmg/dds243
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- Publication type:
- Article
Mitochondrial DNA heteroplasmy in diabetes and normal adults: role of acquired and inherited mutational patterns in twins.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 19, p. 4214, doi. 10.1093/hmg/dds245
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- Publication type:
- Article
Functional consequences of PRPF39 on distant genes and cisplatin sensitivity.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 19, p. 4348, doi. 10.1093/hmg/dds266
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- Publication type:
- Article
RBFOX1 regulates both splicing and transcriptional networks in human neuronal development.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 19, p. 4171, doi. 10.1093/hmg/dds240
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- Publication type:
- Article
Fine-mapping classical HLA variation associated with durable host control of HIV-1 infection in African Americans.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 19, p. 4334, doi. 10.1093/hmg/dds226
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- Publication type:
- Article
Rescue of the genetically engineered Cul4b mutant mouse as a potential model for human X-linked mental retardation.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 19, p. 4270, doi. 10.1093/hmg/dds261
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- Publication type:
- Article
Activation of the stress proteome as a mechanism for small molecule therapeutics.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 19, p. 4237, doi. 10.1093/hmg/dds247
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- Publication type:
- Article
Graded loss of tuberin in an allelic series of brain models of TSC correlates with survival, and biochemical, histological and behavioral features.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 19, p. 4286, doi. 10.1093/hmg/dds262
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- Publication type:
- Article
Replication-timing boundaries facilitate cell-type and species-specific regulation of a rearranged human chromosome in mouse.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 19, p. 4162, doi. 10.1093/hmg/dds232
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- Publication type:
- Article
An ancient founder mutation in PROKR2 impairs human reproduction.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 19, p. 4314, doi. 10.1093/hmg/dds264
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- Publication type:
- Article
Identification of four novel variants that influence central corneal thickness in multi-ethnic Asian populations.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 19, p. 4365, doi. 10.1093/hmg/dds269
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- Publication type:
- Article
Excess variants in AFF2 detected by massively parallel sequencing of males with autism spectrum disorder.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 19, p. 4356, doi. 10.1093/hmg/dds267
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- Publication type:
- Article