Found: 24
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A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 10, p. 1893, doi. 10.1093/hmg/ddr071
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- Article
Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline†.
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- Human Molecular Genetics, 2011, v. 20, n. 10, p. 1916, doi. 10.1093/hmg/ddr073
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- Article
Contents Page.
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- Human Molecular Genetics, 2011, v. 20, n. 10, p. NP, doi. 10.1093/hmg/ddr130
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- Article
Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy.
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- Human Molecular Genetics, 2011, v. 20, n. 10, p. 2015, doi. 10.1093/hmg/ddr084
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- Article
TDP-43 neurotoxicity and protein aggregation modulated by heat shock factor and insulin/IGF-1 signaling.
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- Human Molecular Genetics, 2011, v. 20, n. 10, p. 1952, doi. 10.1093/hmg/ddr076
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- Article
Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.
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- Human Molecular Genetics, 2011, v. 20, n. 10, p. 1975, doi. 10.1093/hmg/ddr078
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- Article
Insufficiency of BUBR1, a mitotic spindle checkpoint regulator, causes impaired ciliogenesis in vertebrates.
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- Human Molecular Genetics, 2011, v. 20, n. 10, p. 2058, doi. 10.1093/hmg/ddr090
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- Article
Cover Page.
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- Human Molecular Genetics, 2011, v. 20, n. 10, p. NP, doi. 10.1093/hmg/ddr132
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- Article
MSUT2 is a determinant of susceptibility to tau neurotoxicity.
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- Human Molecular Genetics, 2011, v. 20, n. 10, p. 1989, doi. 10.1093/hmg/ddr079
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- Article
TCF7L2 splice variants have distinct effects on β-cell turnover and function.
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- Human Molecular Genetics, 2011, v. 20, n. 10, p. 1906, doi. 10.1093/hmg/ddr072
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- Article
A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures.
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- Human Molecular Genetics, 2011, v. 20, n. 10, p. 1886
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- Article
Exposure to resveratrol triggers pharmacological correction of fatty acid utilization in human fatty acid oxidation-deficient fibroblasts.
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- Human Molecular Genetics, 2011, v. 20, n. 10, p. 2048, doi. 10.1093/hmg/ddr089
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- Article
Subscription Page.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 10, p. NP, doi. 10.1093/hmg/ddr135
- Publication type:
- Article
Functional characterization of the AFF (AF4/FMR2) family of RNA-binding proteins: insights into the molecular pathology of FRAXE intellectual disability.
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- Human Molecular Genetics, 2011, v. 20, n. 10, p. 1873, doi. 10.1093/hmg/ddr069
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- Article
FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation.
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- Human Molecular Genetics, 2011, v. 20, n. 10, p. 1925, doi. 10.1093/hmg/ddr074
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- Article
Enhanced excitation-coupled Ca2+ entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease.
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- Human Molecular Genetics, 2011, v. 20, n. 10, p. 2079, doi. 10.1093/hmg/ddr083
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- Article
Editorial Board.
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- Human Molecular Genetics, 2011, v. 20, n. 10, p. NP, doi. 10.1093/hmg/ddr133
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- Article
Electroconvulsive shock ameliorates disease processes and extends survival in huntingtin mutant mice.
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- Human Molecular Genetics, 2011, v. 20, n. 10, p. 2078, doi. 10.1093/hmg/ddr082
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- Article
Sequence variants at CYP1A1–CYP1A2 and AHR associate with coffee consumption.
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- Human Molecular Genetics, 2011, v. 20, n. 10, p. 2071, doi. 10.1093/hmg/ddr086
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- Article
Functional alteration of PARL contributes to mitochondrial dysregulation in Parkinson's disease.
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- Human Molecular Genetics, 2011, v. 20, n. 10, p. 1966, doi. 10.1093/hmg/ddr077
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- Article
The Batten disease gene CLN3 is required for the response to oxidative stress.
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- Human Molecular Genetics, 2011, v. 20, n. 10, p. 2037, doi. 10.1093/hmg/ddr088
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- Article
Growth arrest-specific 1 binds to and controls the maturation and processing of the amyloid-β precursor protein.
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- Human Molecular Genetics, 2011, v. 20, n. 10, p. 2026, doi. 10.1093/hmg/ddr085
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- Article
A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degeneration.
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- Human Molecular Genetics, 2011, v. 20, n. 10, p. 2000, doi. 10.1093/hmg/ddr080
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- Article
Mutant huntingtin causes defective actin remodeling during stress: defining a new role for transglutaminase 2 in neurodegenerative disease.
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- Human Molecular Genetics, 2011, v. 20, n. 10, p. 1937, doi. 10.1093/hmg/ddr075
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- Article