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1 |
Material Type: Article
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Genome-wide search for novel human uORFs and N-terminal protein extensions using ribosomal footprintingGenome research, 2012-11, Vol.22 (11), p.2208-2218 [Peer Reviewed Journal]2012 ;ISSN: 1088-9051 ;EISSN: 1549-5469 ;DOI: 10.1101/gr.139568.112 ;PMID: 22879431Full text available |
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Material Type: Article
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Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnosticsBMC medical genomics, 2018-03, Vol.11 (1), p.35-35, Article 35 [Peer Reviewed Journal]The Author(s) 2018 ;ISSN: 1755-8794 ;EISSN: 1755-8794 ;DOI: 10.1186/s12920-018-0353-y ;PMID: 29580235Full text available |
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Material Type: Article
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Genomic and geographic distribution of SNP-defined runs of homozygosity in EuropeansHuman molecular genetics, 2010-08, Vol.19 (15), p.2927-2935 [Peer Reviewed Journal]2015 INIST-CNRS ;ISSN: 0964-6906 ;EISSN: 1460-2083 ;DOI: 10.1093/hmg/ddq198 ;PMID: 20462934Full text available |
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Material Type: Article
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A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in FibrosisAmerican journal of human genetics, 2017-09, Vol.101 (3), p.417-427 [Peer Reviewed Journal]2017 The Author(s) ;Copyright © 2017 The Author(s). Published by Elsevier Inc. All rights reserved. ;2017 The Author(s) 2017 ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2017.08.006 ;PMID: 28886342Full text available |
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Material Type: Article
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Ancient DNA study reveals HLA susceptibility locus for leprosy in medieval EuropeansNature communications, 2018-05, Vol.9 (1), p.1569-11, Article 1569 [Peer Reviewed Journal]2018. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;The Author(s) 2018 ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-018-03857-x ;PMID: 29717136Full text available |
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Material Type: Article
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A genome-wide association meta-analysis implicates Hedgehog and Notch signaling in Dupuytren's diseaseNature communications, 2024-01, Vol.15 (1), p.199-199, Article 199 [Peer Reviewed Journal]2024. The Author(s). ;The Author(s) 2024. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;The Author(s) 2024 ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-023-44451-0 ;PMID: 38172110Full text available |
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Material Type: Article
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Genome-wide association study identifies ANXA11 as a new susceptibility locus for sarcoidosisNature genetics, 2008-09, Vol.40 (9), p.1103-1106 [Peer Reviewed Journal]2008 INIST-CNRS ;COPYRIGHT 2008 Nature Publishing Group ;Copyright Nature Publishing Group Sep 2008 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.198 ;PMID: 19165924 ;CODEN: NGENECFull text available |
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Material Type: Article
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What Makes a Hot-Spring Habitat “Hot” for the Hot-Spring Snake: Distributional Data and Niche Modelling for the Genus Thermophis (Serpentes, Colubridae)Diversity (Basel), 2021-07, Vol.13 (7), p.325 [Peer Reviewed Journal]2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 1424-2818 ;EISSN: 1424-2818 ;DOI: 10.3390/d13070325Full text available |
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9 |
Material Type: Article
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Identification of a shared genetic susceptibility locus for coronary heart disease and periodontitisPLoS genetics, 2009-02, Vol.5 (2), p.e1000378-e1000378 [Peer Reviewed Journal]COPYRIGHT 2009 Public Library of Science ;COPYRIGHT 2009 Public Library of Science ;Schaefer et al. 2009 ;2009 Schaefer et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited: Schaefer AS, Richter GM, Groessner-Schreiber B, Noack B, Nothnagel M, et al. (2009) Identification of a Shared Genetic Susceptibility Locus for Coronary Heart Disease and Periodontitis. PLoS Genet 5(2): e1000378. doi:10.1371/journal.pgen.1000378 ;ISSN: 1553-7404 ;ISSN: 1553-7390 ;EISSN: 1553-7404 ;DOI: 10.1371/journal.pgen.1000378 ;PMID: 19214202Full text available |
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Material Type: Article
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Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation SequencingPloS one, 2016-01, Vol.11 (1), p.e0146040-e0146040 [Peer Reviewed Journal]COPYRIGHT 2016 Public Library of Science ;COPYRIGHT 2016 Public Library of Science ;2016 Lal et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2016 Lal et al 2016 Lal et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0146040 ;PMID: 26789268Full text available |
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Material Type: Article
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Evaluation of potential effects of Plastin 3 overexpression and low-dose SMN-antisense oligonucleotides on putative biomarkers in spinal muscular atrophy micePloS one, 2018-09, Vol.13 (9), p.e0203398-e0203398 [Peer Reviewed Journal]COPYRIGHT 2018 Public Library of Science ;COPYRIGHT 2018 Public Library of Science ;2018 Strathmann et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2018 Strathmann et al 2018 Strathmann et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0203398 ;PMID: 30188931Full text available |
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Material Type: Article
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Validation of reported genetic risk factors for periodontitis in a large-scale replication studyJournal of clinical periodontology, 2013-06, Vol.40 (6), p.563-572 [Peer Reviewed Journal]2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd ;2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. ;Copyright © 2013 John Wiley & Sons A/S ;ISSN: 0303-6979 ;EISSN: 1600-051X ;DOI: 10.1111/jcpe.12092 ;PMID: 23587006Full text available |
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Material Type: Article
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Meta-Analysis of Genome-Wide Association Studies and Network Analysis-Based Integration with Gene Expression Data Identify New Suggestive Loci and Unravel a Wnt-Centric Network Associated with Dupuytren's DiseasePloS one, 2016-07, Vol.11 (7), p.e0158101 [Peer Reviewed Journal]COPYRIGHT 2016 Public Library of Science ;COPYRIGHT 2016 Public Library of Science ;2016 Becker et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2016 Becker et al 2016 Becker et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0158101 ;PMID: 27467239Full text available |
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Material Type: Article
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Potentials and limits of pairwise kinship analysis using autosomal short tandem repeat lociInternational journal of legal medicine, 2010-05, Vol.124 (3), p.205-215 [Peer Reviewed Journal]Springer-Verlag 2010 ;ISSN: 0937-9827 ;EISSN: 1437-1596 ;DOI: 10.1007/s00414-009-0413-0 ;PMID: 20143081Full text available |
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15 |
Material Type: Article
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The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?PloS one, 2016-12, Vol.11 (12), p.e0167984-e0167984 [Peer Reviewed Journal]COPYRIGHT 2016 Public Library of Science ;COPYRIGHT 2016 Public Library of Science ;2016 Seemanova et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2016 Seemanova et al 2016 Seemanova et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0167984 ;PMID: 27936167Full text available |
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Material Type: Article
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Analysis of single nucleotide polymorphisms in chronic beryllium diseaseRespiratory research, 2021-04, Vol.22 (1), p.107-5, Article 107 [Peer Reviewed Journal]2021. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;The Author(s) 2021 ;ISSN: 1465-993X ;ISSN: 1465-9921 ;EISSN: 1465-993X ;DOI: 10.1186/s12931-021-01691-2 ;PMID: 33863318Full text available |
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17 |
Material Type: Article
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Development and Evaluation of the Ancestry Informative Marker Panel of the VISAGE Basic ToolGenes, 2021-08, Vol.12 (8), p.1284 [Peer Reviewed Journal]2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2021 by the authors. 2021 ;ISSN: 2073-4425 ;EISSN: 2073-4425 ;DOI: 10.3390/genes12081284 ;PMID: 34440458Full text available |
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Material Type: Article
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Mutations Causing Complex Disease May under Certain Circumstances Be Protective in an Epidemiological SensePloS one, 2015-07, Vol.10 (7), p.e0132150-e0132150 [Peer Reviewed Journal]COPYRIGHT 2015 Public Library of Science ;COPYRIGHT 2015 Public Library of Science ;2015 Siegert et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2015 Siegert et al 2015 Siegert et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0132150 ;PMID: 26161957Full text available |
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Material Type: Article
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Family-Based Benchmarking of Copy Number Variation Detection SoftwarePloS one, 2015-07, Vol.10 (7), p.e0133465-e0133465 [Peer Reviewed Journal]COPYRIGHT 2015 Public Library of Science ;COPYRIGHT 2015 Public Library of Science ;2015 Nutsua et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2015 Nutsua et al 2015 Nutsua et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0133465 ;PMID: 26197066Full text available |
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Material Type: Article
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Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy SyndromesPloS one, 2016-03, Vol.11 (3), p.e0150426 [Peer Reviewed Journal]COPYRIGHT 2016 Public Library of Science ;COPYRIGHT 2016 Public Library of Science ;This is an open access article, free of all copyright, and may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose. The work is made available under the Creative Commons CC0 public domain dedication: https://creativecommons.org/publicdomain/zero/1.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0150426 ;PMID: 26990884Full text available |