Found: 14
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Vitamin D and overall cancer risk and cancer mortality: a Mendelian randomization study.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 24, p. 4315, doi. 10.1093/hmg/ddy307
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- Article
Sequential cleavage of the proteins encoded by HNOT/ALG3, the human counterpart of the Drosophila NOT and yeast ALG3 gene, results in products acting in distinct cellular compartments.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 24, p. 4231, doi. 10.1093/hmg/ddy315
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- Article
Overexpression of Grainyhead-like 3 causes spina bifida and interacts genetically with mutant alleles of Grhl2 and Vangl2 in mice.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 24, p. 4218, doi. 10.1093/hmg/ddy313
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- Article
Plastin 3 influences bone homeostasis through regulation of osteoclast activity.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 24, p. 4249, doi. 10.1093/hmg/ddy318
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- Article
A novel p.(Glu111Val) missense mutation in GUCA1A associated with cone-rod dystrophy leads to impaired calcium sensing and perturbed second messenger homeostasis in photoreceptors.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 24, p. 4204, doi. 10.1093/hmg/ddy311
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- Article
A novel mouse model of hemangiopericytoma due to loss of Tsc2.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 24, p. 4169, doi. 10.1093/hmg/ddy289
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- Article
Functionally distinct ERAP1 and ERAP2 are a hallmark of HLA-A29-(Birdshot) Uveitis.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 24, p. 4333, doi. 10.1093/hmg/ddy319
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- Article
Large-scale meta-analysis highlights the hypothalamic–pituitary–gonadal axis in the genetic regulation of menstrual cycle length.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 24, p. 4323, doi. 10.1093/hmg/ddy317
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- Publication type:
- Article
The long non-coding RNA NEAT1 is elevated in polyglutamine repeat expansion diseases and protects from disease gene-dependent toxicities.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 24, p. 4303, doi. 10.1093/hmg/ddy331
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- Article
Bi-allelic mutations in MYL1 cause a severe congenital myopathy.
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- Human Molecular Genetics, 2018, v. 27, n. 24, p. 4263, doi. 10.1093/hmg/ddy320
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- Publication type:
- Article
Genome-wide identification of FOXL2 binding and characterization of FOXL2 feminizing action in the fetal gonads.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 24, p. 4273, doi. 10.1093/hmg/ddy312
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- Publication type:
- Article
Loss of LDAH associated with prostate cancer and hearing loss.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 24, p. 4194, doi. 10.1093/hmg/ddy310
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- Article
Distinct functional roles of Vps41-mediated neuroprotection in Alzheimer's and Parkinson's disease models of neurodegeneration.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 24, p. 4176, doi. 10.1093/hmg/ddy308
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- Article
Biallelic mutations in human NHLRC2 enhance myofibroblast differentiation in FINCA disease.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 24, p. 4288, doi. 10.1093/hmg/ddy298
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- Publication type:
- Article