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PubMed 22658899 Three cases of Creutzfeldt-Jakob disease with prion protein gene codon180 mutation presenting with pathological laughing and crying. Although there are no reports of pathological laughing and crying b 1.24 KB 2015-11-26 9 3
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PubMed 9450907 Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency. Hyperphenylalaninemia (HPA) may be caused by def 1.82 KB 2015-11-27 4 11
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PubMed 23857226 The reduced folate carrier (RFC-1) 80A>G polymorphism and maternal risk of having a child with Down syndrome: a meta-analysis. A common polymorphism (c.80A>G) in the gene coding for the reduced folate 1.4 KB 2015-11-27 5 3
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PubMed 26361067 Association of human microRNAs miR-22 and miR-491 polymorphisms with panic disorder with or without agoraphobia in a Korean population. BACKGROUND: The possible involvement of microRNAs (miRNA) in psy 1.87 KB 2025-10-02 6 32
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PubMed 26240981 Comprehensive evaluation of the neuropeptide-Y gene variants in the risk of obesity: a case-control study and meta-analysis. BACKGROUND: Orexigenic actions mediated by neuropeptide-Y (NPY) promote bod 1.82 KB 2025-10-02 6 7
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PubMed 24450682 Incidence and predictive factors of inadequate fine-needle aspirates for BRAF(V600E) mutation analysis in thyroid nodules. OBJECTIVE: BRAF(V600E) mutation (valine-to-glutamate substitution at residue 2.15 KB 2015-11-27 5 3
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PubMed 22359319 The functional cytotoxic T lymphocyte-associated Protein 4 49G-to-A genetic variant and risk of pancreatic cancer. BACKGROUND: Antitumor T lymphocytes play an essential part in immune surveillance of 1.79 KB 2015-11-26 5 5
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PubMed 24835231 Associations of polymorphisms in histidine decarboxylase, histamine N-methyltransferase and histamine receptor H3 genes with breast cancer. We previously found that genetic polymorphisms in gene codin 1.72 KB 2016-01-17 5 10
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PubMed 22251709 The C allele of JAK2 rs4495487 is an additional candidate locus that contributes to myeloproliferative neoplasm predisposition in the Japanese population. BACKGROUND: Polycythemia vera (PV), essential 2.41 KB 2016-01-04 9 9
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PubMed 22645142 Variants of Toll-like receptor 4 predict cardiac recovery in patients with dilated cardiomyopathy. The clinical course of patients with dilated cardiomyopathy (DCM) varies from cardiac recovery to end 1.76 KB 2015-11-26 27 5
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