Found: 17
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Fine-mapping, novel loci identification, and SNP association transferability in a genome-wide association study of QRS duration in African Americans.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 19, p. 4350, doi. 10.1093/hmg/ddw284
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- Article
Collapsed methylation quantitative trait loci analysis for low frequency and rare variants.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 19, p. 4339, doi. 10.1093/hmg/ddw283
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- Publication type:
- Article
The human-specific CASP4 gene product contributes to Alzheimer-related synaptic and behavioural deficits.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 19, p. 4315, doi. 10.1093/hmg/ddw265
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- Article
Dmpk gene deletion or antisense knockdown does not compromise cardiac or skeletal muscle function in mice.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 19, p. 4328, doi. 10.1093/hmg/ddw266
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- Publication type:
- Article
Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 19, p. 4302, doi. 10.1093/hmg/ddw263
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- Article
Frataxin silencing alters microtubule stability in motor neurons: implications for Friedreich's ataxia.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 19, p. 4288, doi. 10.1093/hmg/ddw260
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- Article
Cytokine genes as potential biomarkers for muscle weakness in OPMD.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 19, p. 4282, doi. 10.1093/hmg/ddw259
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- Publication type:
- Article
Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 19, p. 4211, doi. 10.1093/hmg/ddw254
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- Publication type:
- Article
Selective mitochondrial depletion, apoptosis resistance, and increased mitophagy in human Charcot-Marie-Tooth 2A motor neurons.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 19, p. 4266, doi. 10.1093/hmg/ddw258
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- Article
Reprogramming towards anabolism impedes degeneration in a preclinical model of retinitis pigmentosa.
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- Human Molecular Genetics, 2016, v. 25, n. 19, p. 4244, doi. 10.1093/hmg/ddw256
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- Article
Disrupted in schizophrenia 1 (DISC1) is a constituent of the mammalian mitochondrial contact site and cristae organizing system (MICOS) complex, and is essential for oxidative phosphorylation.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 19, p. 4157, doi. 10.1093/hmg/ddw250
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- Publication type:
- Article
The COQ2 genotype predicts the severity of coenzyme Q<sub>10</sub> deficiency.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 19, p. 4256, doi. 10.1093/hmg/ddw257
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- Publication type:
- Article
Catenin delta-1 (CTNND1) phosphorylation controls the mesenchymal to epithelial transition in astrocytic tumors.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 19, p. 4201, doi. 10.1093/hmg/ddw253
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- Publication type:
- Article
Myelinosomes act as natural secretory organelles in Sertoli cells to prevent accumulation of aggregate-prone mutant Huntingtin and CFTR.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 19, p. 4170, doi. 10.1093/hmg/ddw251
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- Article
HDAC6 deficiency or inhibition blocks FGFR3 accumulation and improves bone growth in a model of achondroplasia.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 19, p. 4227, doi. 10.1093/hmg/ddw255
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- Article
A mouse model for creatine transporter deficiency reveals early onset cognitive impairment and neuropathology associated with brain aging.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 19, p. 4186, doi. 10.1093/hmg/ddw252
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- Publication type:
- Article
Neurodevelopmental alterations and seizures developed by mouse model of infantile hypophosphatasia are associated with purinergic signalling deregulation.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 19, p. 4143, doi. 10.1093/hmg/ddw248
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- Publication type:
- Article