Found: 22
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Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 20, p. 3974, doi. 10.1093/hmg/ddr324
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- Publication type:
- Article
Noggin null allele mice exhibit a microform of holoprosencephaly.
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- Human Molecular Genetics, 2011, v. 20, n. 20, p. 4005, doi. 10.1093/hmg/ddr329
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- Publication type:
- Article
Inhibitors of LRRK2 kinase attenuate neurodegeneration and Parkinson-like phenotypes in Caenorhabditis elegans and Drosophila Parkinson's disease models.
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- Human Molecular Genetics, 2011, v. 20, n. 20, p. 3933, doi. 10.1093/hmg/ddr312
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- Article
The common missense mutation D489N in TRIM32 causing limb girdle muscular dystrophy 2H leads to loss of the mutated protein in knock-in mice resulting in a Trim32-null phenotype.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 20, p. 3925, doi. 10.1093/hmg/ddr311
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- Article
Adult height variants affect birth length and growth rate in children.
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- Human Molecular Genetics, 2011, v. 20, n. 20, p. 4069, doi. 10.1093/hmg/ddr309
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- Article
Mice lacking Nf1 in osteochondroprogenitor cells display skeletal dysplasia similar to patients with neurofibromatosis type I.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 20, p. 3910, doi. 10.1093/hmg/ddr310
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- Publication type:
- Article
The Sirtuin 2 microtubule deacetylase is an abundant neuronal protein that accumulates in the aging CNS.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 20, p. 3986, doi. 10.1093/hmg/ddr326
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- Article
Editorial Board.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 20, p. NP, doi. 10.1093/hmg/ddr412
- Publication type:
- Article
Allelic heterogeneity and more detailed analyses of known loci explain additional phenotypic variation and reveal complex patterns of association.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 20, p. 4082, doi. 10.1093/hmg/ddr328
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- Article
Subscription Page.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 20, p. NP, doi. 10.1093/hmg/ddr413
- Publication type:
- Article
Cover Page.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 20, p. NP, doi. 10.1093/hmg/ddr411
- Publication type:
- Article
Altered palmitoylation and neuropathological deficits in mice lacking HIP14.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 20, p. 3899, doi. 10.1093/hmg/ddr308
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- Publication type:
- Article
Common variants at VRK2 and TCF4 conferring risk of schizophrenia.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 20, p. 4076, doi. 10.1093/hmg/ddr325
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- Publication type:
- Article
The accumulation of un-repairable DNA damage in laminopathy progeria fibroblasts is caused by ROS generation and is prevented by treatment with N-acetyl cysteine.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 20, p. 3997, doi. 10.1093/hmg/ddr327
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- Publication type:
- Article
Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.
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- Human Molecular Genetics, 2011, v. 20, n. 20, p. 4056, doi. 10.1093/hmg/ddr307
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- Publication type:
- Article
Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice.
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- Human Molecular Genetics, 2011, v. 20, n. 20, p. 3943, doi. 10.1093/hmg/ddr313
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- Publication type:
- Article
The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 20, p. 4041, doi. 10.1093/hmg/ddr332
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- Publication type:
- Article
Contents Page.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 20, p. NP, doi. 10.1093/hmg/ddr410
- Publication type:
- Article
Novel mechanism of Hsp70 chaperone-mediated prevention of polyglutamine aggregates in a cellular model of huntington disease.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 20, p. 3953, doi. 10.1093/hmg/ddr314
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- Publication type:
- Article
Deep sequencing of small RNAs from human skin reveals major alterations in the psoriasis miRNAome.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 20, p. 4025, doi. 10.1093/hmg/ddr331
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- Publication type:
- Article
MicroRNA-132 loss is associated with tau exon 10 inclusion in progressive supranuclear palsy.
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- Human Molecular Genetics, 2011, v. 20, n. 20, p. 4016, doi. 10.1093/hmg/ddr330
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- Publication type:
- Article
Allele-specific distribution of RNA polymerase II on female X chromosomes.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 20, p. 3964, doi. 10.1093/hmg/ddr315
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- Publication type:
- Article