Results 1 - 20 of 2,844 for All Library Resources
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| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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| 1 |
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Mitochondrial energy generation disorders: genes, mechanisms, and clues to pathologyThe Journal of biological chemistry, 2019-04, Vol.294 (14), p.5386-5395 [Peer Reviewed Journal]2019 © 2019 by The American Society for Biochemistry and Molecular Biology, Inc. ;2019 by The American Society for Biochemistry and Molecular Biology, Inc. ;2019 by The American Society for Biochemistry and Molecular Biology, Inc. 2019 The American Society for Biochemistry and Molecular Biology, Inc. ;ISSN: 0021-9258 ;EISSN: 1083-351X ;DOI: 10.1074/jbc.R117.809194 ;PMID: 29233888Full text available |
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Genetic epidemiology and Mendelian randomization for informing disease therapeutics: Conceptual and methodological challengesPLoS genetics, 2017-10, Vol.13 (10), p.e1006944-e1006944 [Peer Reviewed Journal]COPYRIGHT 2017 Public Library of Science ;COPYRIGHT 2017 Public Library of Science ;2017 Public Library of Science. 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: Paternoster L, Tilling K, Davey Smith G (2017) Genetic epidemiology and Mendelian randomization for informing disease therapeutics: Conceptual and methodological challenges. PLoS Genet13(10): e1006944. https://doi.org/10.1371/journal.pgen.1006944 ;2017 Paternoster et al 2017 Paternoster et al ;2017 Public Library of Science. 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: Paternoster L, Tilling K, Davey Smith G (2017) Genetic epidemiology and Mendelian randomization for informing disease therapeutics: Conceptual and methodological challenges. PLoS Genet13(10): e1006944. https://doi.org/10.1371/journal.pgen.1006944 ;ISSN: 1553-7404 ;ISSN: 1553-7390 ;EISSN: 1553-7404 ;DOI: 10.1371/journal.pgen.1006944 ;PMID: 28981501Full text available |
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Hypoxia, angiogenesis, and metabolism in the hereditary kidney cancersThe Journal of clinical investigation, 2019-02, Vol.129 (2), p.442-451 [Peer Reviewed Journal]COPYRIGHT 2019 American Society for Clinical Investigation ;COPYRIGHT 2019 American Society for Clinical Investigation ;Copyright American Society for Clinical Investigation Feb 2019 ;Copyright © 2019, American Society for Clinical Investigation 2019 American Society for Clinical Investigation ;ISSN: 0021-9738 ;EISSN: 1558-8238 ;DOI: 10.1172/JCI120855 ;PMID: 30614813Full text available |
| 4 |
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Monogenic diabetes: a gateway to precision medicine in diabetesThe Journal of clinical investigation, 2021-02, Vol.131 (3) [Peer Reviewed Journal]COPYRIGHT 2021 American Society for Clinical Investigation ;COPYRIGHT 2021 American Society for Clinical Investigation ;2021 American Society for Clinical Investigation 2021 American Society for Clinical Investigation ;ISSN: 0021-9738 ;EISSN: 1558-8238 ;DOI: 10.1172/JCI142244 ;PMID: 33529164Full text available |
| 5 |
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VarAFT: a variant annotation and filtration system for human next generation sequencing dataNucleic acids research, 2018-07, Vol.46 (W1), p.W545-W553 [Peer Reviewed Journal]The Author(s) 2018. Published by Oxford University Press on behalf of Nucleic Acids Research. 2018 ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0305-1048 ;EISSN: 1362-4962 ;DOI: 10.1093/nar/gky471 ;PMID: 29860484Full text available |
| 6 |
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Dead Cas Systems: Types, Principles, and ApplicationsInternational journal of molecular sciences, 2019-11, Vol.20 (23), p.6041 [Peer Reviewed Journal]2019 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 (http://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. ;2019 by the authors. 2019 ;ISSN: 1422-0067 ;ISSN: 1661-6596 ;EISSN: 1422-0067 ;DOI: 10.3390/ijms20236041 ;PMID: 31801211Full text available |
| 7 |
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Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestationsThe Journal of clinical investigation, 2014-12, Vol.124 (12), p.5516-5520 [Peer Reviewed Journal]COPYRIGHT 2014 American Society for Clinical Investigation ;COPYRIGHT 2014 American Society for Clinical Investigation ;Copyright American Society for Clinical Investigation Dec 2014 ;Copyright © 2014, American Society for Clinical Investigation 2014 American Society for Clinical Investigation ;ISSN: 0021-9738 ;EISSN: 1558-8238 ;DOI: 10.1172/JCI79100 ;PMID: 25401470Full text available |
| 8 |
Material Type: Article
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The Human Disease Ontology 2022 updateNucleic acids research, 2022-01, Vol.50 (D1), p.D1255-D1261 [Peer Reviewed Journal]The Author(s) 2021. Published by Oxford University Press on behalf of Nucleic Acids Research. 2022 ;The Author(s) 2021. Published by Oxford University Press on behalf of Nucleic Acids Research. ;ISSN: 0305-1048 ;EISSN: 1362-4962 ;DOI: 10.1093/nar/gkab1063 ;PMID: 34755882Full text available |
| 9 |
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Centronuclear (myotubular) myopathyOrphanet journal of rare diseases, 2008-09, Vol.3 (1), p.26-26, Article 26 [Peer Reviewed Journal]Distributed under a Creative Commons Attribution 4.0 International License ;Copyright © 2008 Jungbluth et al; licensee BioMed Central Ltd. 2008 Jungbluth et al; licensee BioMed Central Ltd. ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/1750-1172-3-26 ;PMID: 18817572Full text available |
| 10 |
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webTWAS: a resource for disease candidate susceptibility genes identified by transcriptome-wide association studyNucleic acids research, 2022-01, Vol.50 (D1), p.D1123-D1130 [Peer Reviewed Journal]The Author(s) 2021. Published by Oxford University Press on behalf of Nucleic Acids Research. 2022 ;The Author(s) 2021. Published by Oxford University Press on behalf of Nucleic Acids Research. ;ISSN: 0305-1048 ;EISSN: 1362-4962 ;DOI: 10.1093/nar/gkab957 ;PMID: 34669946Full text available |
| 11 |
Material Type: Article
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The Human Phenotype Ontology project: linking molecular biology and disease through phenotype dataNucleic acids research, 2014-01, Vol.42 (Database issue), p.D966-D974 [Peer Reviewed Journal]The Author(s) 2013. Published by Oxford University Press. 2013 ;ISSN: 0305-1048 ;EISSN: 1362-4962 ;DOI: 10.1093/nar/gkt1026 ;PMID: 24217912Full text available |
| 12 |
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When a common biological role does not imply common disease outcomes: Disparate pathology linked to human mitochondrial aminoacyl-tRNA synthetasesThe Journal of biological chemistry, 2019-04, Vol.294 (14), p.5309-5320 [Peer Reviewed Journal]2019 © 2019 González-Serrano et al. ;2019 González-Serrano et al. ;Distributed under a Creative Commons Attribution 4.0 International License ;2019 González-Serrano et al. 2019 González-Serrano et al. ;ISSN: 0021-9258 ;EISSN: 1083-351X ;DOI: 10.1074/jbc.REV118.002953 ;PMID: 30647134Full text available |
| 13 |
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Amelogenesis imperfectaOrphanet journal of rare diseases, 2007-04, Vol.2 (1), p.17-17, Article 17 [Peer Reviewed Journal]COPYRIGHT 2007 BioMed Central Ltd. ;Distributed under a Creative Commons Attribution 4.0 International License ;Copyright © 2007 Crawford et al; licensee BioMed Central Ltd. 2007 Crawford et al; licensee BioMed Central Ltd. ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/1750-1172-2-17 ;PMID: 17408482Full text available |
| 14 |
Material Type: Article
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Neuroinflammation Associated With Inborn Errors of ImmunityFrontiers in immunology, 2022-01, Vol.12, p.827815-827815 [Peer Reviewed Journal]Copyright © 2022 Lindahl and Bryceson. ;Copyright © 2022 Lindahl and Bryceson 2022 Lindahl and Bryceson ;ISSN: 1664-3224 ;EISSN: 1664-3224 ;DOI: 10.3389/fimmu.2021.827815 ;PMID: 35126383Full text available |
| 15 |
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Lessons learned from additional research analyses of unsolved clinical exome casesGenome medicine, 2017-03, Vol.9 (1), p.26-26, Article 26 [Peer Reviewed Journal]Copyright BioMed Central 2017 ;The Author(s). 2017 ;ISSN: 1756-994X ;EISSN: 1756-994X ;DOI: 10.1186/s13073-017-0412-6 ;PMID: 28327206Full text available |
| 16 |
Material Type: Article
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Treatment of immune-mediated cytopenias in patients with primary immunodeficiencies and immune regulatory disorders (PIRDs)Hematology, 2020-12, Vol.2020 (1), p.673-679 [Peer Reviewed Journal]2020 by The American Society of Hematology. ;2020 by The American Society of Hematology. 2020 American Society of Hematology ;ISSN: 1520-4391 ;EISSN: 1520-4383 ;DOI: 10.1182/HEMATOLOGY.2020000153 ;PMID: 33275670Full text available |
| 17 |
Material Type: Article
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Bruton tyrosine kinase deficiency augments NLRP3 inflammasome activation and causes IL-1β-mediated colitisThe Journal of clinical investigation, 2020-04, Vol.130 (4), p.1793-1807 [Peer Reviewed Journal]Copyright American Society for Clinical Investigation Apr 2020 ;2020 American Society for Clinical Investigation 2020 American Society for Clinical Investigation ;ISSN: 0021-9738 ;EISSN: 1558-8238 ;DOI: 10.1172/JCI128322 ;PMID: 31895698Full text available |
| 18 |
Material Type: Article
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YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stressThe Journal of clinical investigation, 2020-12, Vol.130 (12), p.6338-6353 [Peer Reviewed Journal]COPYRIGHT 2020 American Society for Clinical Investigation ;2020 De Franco et al. 2020 De Franco et al. ;ISSN: 0021-9738 ;EISSN: 1558-8238 ;DOI: 10.1172/jci141455 ;PMID: 33164986Full text available |
| 19 |
Material Type: Article
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Unlocking Mendelian disease using exome sequencingGenome biology, 2011-01, Vol.12 (9), p.228-228 [Peer Reviewed Journal]Copyright ©2011 BioMed Central Ltd. 2011 BioMed Central Ltd. ;ISSN: 1465-6906 ;EISSN: 1474-760X ;EISSN: 1465-6914 ;DOI: 10.1186/gb-2011-12-9-228 ;PMID: 21920049Full text available |
| 20 |
Material Type: Article
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Genic intolerance to functional variation and the interpretation of personal genomesPLoS genetics, 2013-08, Vol.9 (8), p.e1003709-e1003709 [Peer Reviewed Journal]COPYRIGHT 2013 Public Library of Science ;COPYRIGHT 2013 Public Library of Science ;2013 Petrovski et al 2013 Petrovski et al ;2013 Petrovski 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: Petrovski S, Wang Q, Heinzen EL, Allen AS, Goldstein DB (2013) Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes. PLoS Genet 9(8): e1003709. doi:10.1371/journal.pgen.1003709 ;ISSN: 1553-7404 ;ISSN: 1553-7390 ;EISSN: 1553-7404 ;DOI: 10.1371/journal.pgen.1003709 ;PMID: 23990802Full text available |
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