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Evidence that WT1 mutations in Denys — Drash syndrome patients may act in a dominant-negative fashion JOURNAL ARTICLE published 1993 in Human Molecular Genetics |
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Inferring primary tumor sites from mutation spectra: a meta-analysis of histology-specific aberrations in cancer-derived cell lines JOURNAL ARTICLE published 15 March 2014 in Human Molecular Genetics |
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Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome JOURNAL ARTICLE published 1 January 2007 in Human Molecular Genetics |
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AAV9-mediated delivery of miR-23a reduces disease severity in Smn2B/−SMA model mice JOURNAL ARTICLE published 1 October 2019 in Human Molecular Genetics Research funded by National Institutes of Health (R21NS106490,T32 GM008396,R25GM064120) |
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Conditional deletion of Ccm2 causes hemorrhage in the adult brain: a mouse model of human cerebral cavernous malformations JOURNAL ARTICLE published 15 August 2011 in Human Molecular Genetics |
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A trans-ethnic genome-wide association study identifies gender-specific loci influencing pediatric aBMD and BMC at the distal radius JOURNAL ARTICLE published 1 September 2015 in Human Molecular Genetics Research funded by National Institutes of Health (HD58886, HD076321) | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) (N01-HD-1-3228, -3329, -3330, -3331, -3332, -3333) | National Institutes of Health (NIH) Clinical and Translational Science Award (CTSA) (8 UL1 TR000077) |
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A new MHC-linked susceptibility locus for primary Sjögren’s syndrome: MICA JOURNAL ARTICLE published 1 July 2017 in Human Molecular Genetics |
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Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis JOURNAL ARTICLE published 15 November 2010 in Human Molecular Genetics |
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Comparison of pathways controlling toxicity in the eye and brain in Drosophila models of human neurodegenerative diseases JOURNAL ARTICLE published 15 September 2004 in Human Molecular Genetics |
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Pathway analysis of cervical cancer genome-wide association study highlights the MHC region and pathways involved in response to infection JOURNAL ARTICLE published 15 November 2014 in Human Molecular Genetics |
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Novel immunogenic antigen homologous to hyaluronidase in meningioma JOURNAL ARTICLE published 1 November 1998 in Human Molecular Genetics |
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Nemo-like kinase reduces mutant huntingtin levels and mitigates Huntington’s disease JOURNAL ARTICLE published 28 May 2020 in Human Molecular Genetics Research funded by NIH (R21MH119803,R01NS088321,R01NS083706,R21NS099670,R21NS094886,R01NS082338) |
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Elevated expression of MeCP2 in cardiac and skeletal tissues is detrimental for normal development JOURNAL ARTICLE published 1 June 2010 in Human Molecular Genetics |
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Mesenchymal stem cell-derived extracellular vesicles alleviate cervical cancer by delivering microRNA-331-3p to reduce LIM zinc finger domain containing 2 methylation in tumor cells JOURNAL ARTICLE published 10 November 2022 in Human Molecular Genetics Research funded by National Natural Science Foundation of China (81672584,U20A20339,81872460) | Key Research and Development Program of Heilongjiang Province (GA21C004) | Harbin Medical University Cancer Hospital (JCQN2021-02) |
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Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease JOURNAL ARTICLE published 1995 in Human Molecular Genetics |
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MATS: a novel multi-ancestry transcriptome-wide association study to account for heterogeneity in the effects of cis-regulated gene expression on complex traits JOURNAL ARTICLE published 6 April 2023 in Human Molecular Genetics Research funded by National Institutes of Health (R01GM126002,R01HL116720,U01AG073079,RF1 AG067924,R01AG069895,R01AG065636) |
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A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions JOURNAL ARTICLE published 1 May 2017 in Human Molecular Genetics |
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Strategies to prevent cleavage of the linker region between ligand-binding repeats 4 and 5 of the LDL receptor JOURNAL ARTICLE published 15 November 2019 in Human Molecular Genetics |
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Functional evaluation of genetic variation in complex human traits JOURNAL ARTICLE published 15 October 2012 in Human Molecular Genetics |
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The road to pluripotence: the research response to the embryonic stem cell debate JOURNAL ARTICLE published 15 April 2008 in Human Molecular Genetics |