Works matching IS 09646906 AND DT 2022 AND VI 31 AND IP 3
Results: 13
De novo missense variants in FBXO11 alter its protein expression and subcellular localization.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 3, p. 440, doi. 10.1093/hmg/ddab265
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- Article
Protective effects of mitophagy enhancers against amyloid beta-induced mitochondrial and synaptic toxicities in Alzheimer disease.
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- Human Molecular Genetics, 2022, v. 31, n. 3, p. 423, doi. 10.1093/hmg/ddab262
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- Article
data harmonization pipeline to leverage external controls and boost power in GWAS.
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- Human Molecular Genetics, 2022, v. 31, n. 3, p. 481, doi. 10.1093/hmg/ddab261
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- Article
Prioritization and functional analysis of GWAS risk loci for Barrett's esophagus and esophageal adenocarcinoma.
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- Human Molecular Genetics, 2022, v. 31, n. 3, p. 410, doi. 10.1093/hmg/ddab259
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- Article
Distinct functional classes of PDGFRB pathogenic variants in primary familial brain calcification.
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- Human Molecular Genetics, 2022, v. 31, n. 3, p. 399, doi. 10.1093/hmg/ddab258
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- Article
Systemic complement levels in patients with age-related macular degeneration carrying rare or low-frequency variants in the CFH gene.
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- Human Molecular Genetics, 2022, v. 31, n. 3, p. 455, doi. 10.1093/hmg/ddab256
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- Article
Expanded CAG/CTG repeats resist gene silencing mediated by targeted epigenome editing.
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- Human Molecular Genetics, 2022, v. 31, n. 3, p. 386, doi. 10.1093/hmg/ddab255
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- Article
MCU-complex-mediated mitochondrial calcium signaling is impaired in Barth syndrome.
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- Human Molecular Genetics, 2022, v. 31, n. 3, p. 376, doi. 10.1093/hmg/ddab254
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- Article
Assessing the genetic relationship between gastro-esophageal reflux disease and risk of COVID-19 infection.
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- Human Molecular Genetics, 2022, v. 31, n. 3, p. 471, doi. 10.1093/hmg/ddab253
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- Article
Whole genome sequence analysis of platelet traits in the NHLBI Trans-Omics for Precision Medicine (TOPMed) initiative.
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- Human Molecular Genetics, 2022, v. 31, n. 3, p. 347, doi. 10.1093/hmg/ddab252
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- Article
Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans.
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- Human Molecular Genetics, 2022, v. 31, n. 3, p. 362, doi. 10.1093/hmg/ddab248
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- Article
Molecular genetic evaluation of pediatric renovascular hypertension due to renal artery stenosis and abdominal aortic coarctation in neurofibromatosis type 1.
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- Human Molecular Genetics, 2022, v. 31, n. 3, p. 334, doi. 10.1093/hmg/ddab241
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- Article
Single-cell ATAC-Seq reveals cell type-specific transcriptional regulation and unique chromatin accessibility in human spermatogenesis.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 3, p. 321, doi. 10.1093/hmg/ddab006
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- Article