Works matching IS 09646906 AND DT 2013 AND VI 22 AND IP 13
Results: 22
Cover Page.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 13, p. NP, doi. 10.1093/hmg/ddt269
- Publication type:
- Article
The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 13, p. 2723, doi. 10.1093/hmg/ddt120
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- Publication type:
- Article
Subscription Page.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 13, p. NP, doi. 10.1093/hmg/ddt271
- Publication type:
- Article
ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 13, p. 2676, doi. 10.1093/hmg/ddt117
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- Publication type:
- Article
Exclusive skeletal muscle correction does not modulate dystrophic heart disease in the aged mdx model of Duchenne cardiomyopathy.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 13, p. 2634, doi. 10.1093/hmg/ddt112
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- Publication type:
- Article
Editorial Board.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 13, p. NP, doi. 10.1093/hmg/ddt270
- Publication type:
- Article
Increased genome instability in human DNA segments with self-chains: homology-induced structural variations via replicative mechanisms.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 13, p. 2642, doi. 10.1093/hmg/ddt113
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- Publication type:
- Article
Otitis media in the Tgif knockout mouse implicates TGFβ signalling in chronic middle ear inflammatory disease.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 13, p. 2553, doi. 10.1093/hmg/ddt103
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- Publication type:
- Article
ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat–Wilson syndrome.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 13, p. 2652, doi. 10.1093/hmg/ddt114
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- Publication type:
- Article
Heterochromatinization induced by GAA-repeat hyperexpansion in Friedreich's ataxia can be reduced upon HDAC inhibition by vitamin B3.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 13, p. 2662, doi. 10.1093/hmg/ddt115
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- Publication type:
- Article
Trans-splicing correction of tau isoform imbalance in a mouse model of tau mis-splicing.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 13, p. 2603, doi. 10.1093/hmg/ddt108
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- Publication type:
- Article
Testicular germ cell tumor susceptibility associated with the UCK2 locus on chromosome 1q23.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 13, p. 2748, doi. 10.1093/hmg/ddt109
- By:
- Publication type:
- Article
Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 13, p. 2754
- By:
- Publication type:
- Article
Predicting the impact of diet and enzymopathies on human small intestinal epithelial cells.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 13, p. 2705, doi. 10.1093/hmg/ddt119
- By:
- Publication type:
- Article
Absence of cell-surface EpCAM in congenital tufting enteropathy.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 13, p. 2566, doi. 10.1093/hmg/ddt105
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- Publication type:
- Article
Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 13, p. 2590, doi. 10.1093/hmg/ddt107
- By:
- Publication type:
- Article
Insulinotropic treatments exacerbate metabolic syndrome in mice lacking MeCP2 function.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 13, p. 2626, doi. 10.1093/hmg/ddt111
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- Publication type:
- Article
Contents Page.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 13, p. NP, doi. 10.1093/hmg/ddt268
- Publication type:
- Article
PINK1 rendered temperature sensitive by disease-associated and engineered mutations.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 13, p. 2572, doi. 10.1093/hmg/ddt106
- By:
- Publication type:
- Article
Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 13, p. 2735
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- Publication type:
- Article
Temporal requirement for SMN in motoneuron development.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 13, p. 2612, doi. 10.1093/hmg/ddt110
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- Publication type:
- Article
Increased levels of phosphoinositides cause neurodegeneration in a Drosophila model of amyotrophic lateral sclerosis.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 13, p. 2689, doi. 10.1093/hmg/ddt118
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- Publication type:
- Article