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Mutations in ECEL1 cause distal arthrogryposis type 5D. Am J Hum Genet. 2013 Jan 10;92(1):150-6. doi: 10.1016/j.ajhg.2012.11.014. Epub 2012 Dec 20.
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The health behaviour status of teenage and young adult cancer patients and survivors in the United Kingdom.Support Care Cancer. 2020 Feb;28(2):767-777. doi: 10.1007/s00520-019-04719-y. Epub 2019 May 29.
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A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases.Am J Med Genet A. 2018 Jun;176(6):1405-1410. doi: 10.1002/ajmg.a.38691. Epub 2018 Apr 16.
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New Insights of a Neuronal Peptidase DINE/ECEL1: Nerve Development, Nerve Regeneration and Neurogenic Pathogenesis.Neurochem Res. 2019 Jun;44(6):1279-1288. doi: 10.1007/s11064-018-2665-x. Epub 2018 Oct 24.
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ECEL1 mutation causes fetal arthrogryposis multiplex congenita.Am J Med Genet A. 2015 Apr;167A(4):731-43. doi: 10.1002/ajmg.a.37018. Epub 2015 Feb 23.
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The ECEL1-related strabismus phenotype is consistent with congenital cranial dysinnervation disorder.J AAPOS. 2014 Aug;18(4):362-7. doi: 10.1016/j.jaapos.2014.03.005.
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Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes.Clin Genet. 2014 Jun;85(6):562-7. doi: 10.1111/cge.12224. Epub 2013 Jul 19.
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High expression of the novel endothelin-converting enzyme genes, Nbla03145/ECEL1alpha and beta, is associated with favorable prognosis in human neuroblastomas.Int J Oncol. 2003 Apr;22(4):815-22.
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Integrative omics data analyses of repeated dose toxicity of valproic acid in vitro reveal new mechanisms of steatosis induction. Toxicology. 2018 Jan 15;393:160-170.
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Phenotypic characterization of retinoic acid differentiated SH-SY5Y cells by transcriptional profiling. PLoS One. 2013 May 28;8(5):e63862.
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Predictive toxicology using systemic biology and liver microfluidic "on chip" approaches: application to acetaminophen injury. Toxicol Appl Pharmacol. 2012 Mar 15;259(3):270-80.
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Folic acid supplementation dysregulates gene expression in lymphoblastoid cells--implications in nutrition. Biochem Biophys Res Commun. 2011 Sep 9;412(4):688-92. doi: 10.1016/j.bbrc.2011.08.027. Epub 2011 Aug 16.
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Air pollution and DNA methylation alterations in lung cancer: A systematic and comparative study. Oncotarget. 2017 Jan 3;8(1):1369-1391. doi: 10.18632/oncotarget.13622.
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Cell-based two-dimensional morphological assessment system to predict cancer drug-induced cardiotoxicity using human induced pluripotent stem cell-derived cardiomyocytes. Toxicol Appl Pharmacol. 2019 Nov 15;383:114761. doi: 10.1016/j.taap.2019.114761. Epub 2019 Sep 15.
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