Works matching IS 0964-6906 AND VI 31 AND IP 9 AND DT 2022
Results: 14
novel CARM1–HuR axis involved in muscle differentiation and plasticity misregulated in spinal muscular atrophy.
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- Human Molecular Genetics, 2022, v. 31, n. 9, p. 1453, doi. 10.1093/hmg/ddab333
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- Article
Corrigendum to: A genome-wide association study implicates multiple mechanisms influencing raised urinary albumin–creatinine ratio.
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- Human Molecular Genetics, 2022, v. 31, n. 9, p. 1544, doi. 10.1093/hmg/ddac022
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- Article
Dorsal telencephalon-specific Nprl2- and Nprl3-knockout mice: novel mouse models for GATORopathy.
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- Human Molecular Genetics, 2022, v. 31, n. 9, p. 1519, doi. 10.1093/hmg/ddab337
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- Article
Genetic architecture of orbital telorism.
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- Human Molecular Genetics, 2022, v. 31, n. 9, p. 1531, doi. 10.1093/hmg/ddab334
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- Article
Heterogeneity analysis of the immune microenvironment in laryngeal carcinoma revealed potential prognostic biomarkers.
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- Human Molecular Genetics, 2022, v. 31, n. 9, p. 1487, doi. 10.1093/hmg/ddab332
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- Article
Association of PLXND1 with a novel subtype of anomalous pulmonary venous return.
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- Human Molecular Genetics, 2022, v. 31, n. 9, p. 1443, doi. 10.1093/hmg/ddab331
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- Article
F-box protein, FBXO7, is required to maintain chromosome stability in humans.
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- Human Molecular Genetics, 2022, v. 31, n. 9, p. 1471, doi. 10.1093/hmg/ddab330
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- Article
Mouse midbrain dopaminergic neurons survive loss of the PD-associated mitochondrial protein CHCHD2.
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- Human Molecular Genetics, 2022, v. 31, n. 9, p. 1500, doi. 10.1093/hmg/ddab329
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- Article
Small RNAs encoded by human endogenous retrovirus K overexpressed in PBMCs may contribute to the diagnosis and evaluation of systemic lupus erythematosus as novel biomarkers.
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- Human Molecular Genetics, 2022, v. 31, n. 9, p. 1407, doi. 10.1093/hmg/ddab327
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- Article
Loss of α-actinin-3 confers protection from eccentric contraction damage in fast-twitch EDL muscles from aged mdx dystrophic mice by reducing pathological fibre branching.
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- Human Molecular Genetics, 2022, v. 31, n. 9, p. 1417, doi. 10.1093/hmg/ddab326
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- Article
Reduced nuclear NAD+ drives DNA damage and subsequent immune activation in the retina.
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- Human Molecular Genetics, 2022, v. 31, n. 9, p. 1370, doi. 10.1093/hmg/ddab324
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- Article
Biallelic ANKS6 mutations cause late-onset ciliopathy with chronic kidney disease through YAP dysregulation.
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- Human Molecular Genetics, 2022, v. 31, n. 9, p. 1357, doi. 10.1093/hmg/ddab322
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- Article
Mutations of the histone linker H1–4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4.
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- Human Molecular Genetics, 2022, v. 31, n. 9, p. 1430, doi. 10.1093/hmg/ddab321
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- Article
Clinical characterization of a novel RAB39B nonstop mutation in a family with ASD and severe ID causing RAB39B downregulation and study of a Rab39b knock down mouse model.
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- Human Molecular Genetics, 2022, v. 31, n. 9, p. 1389, doi. 10.1093/hmg/ddab320
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- Article