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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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The gasdermins, a protein family executing cell death and inflammationNature reviews. Immunology, 2020-03, Vol.20 (3), p.143-157 [Peer Reviewed Journal]COPYRIGHT 2020 Nature Publishing Group ;COPYRIGHT 2020 Nature Publishing Group ;2019© Springer Nature Limited 2019 ;ISSN: 1474-1733 ;EISSN: 1474-1741 ;DOI: 10.1038/s41577-019-0228-2 ;PMID: 31690840Full text available |
| 2 |
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Lysosomes as dynamic regulators of cell and organismal homeostasisNature reviews. Molecular cell biology, 2020-02, Vol.21 (2), p.101-118 [Peer Reviewed Journal]COPYRIGHT 2020 Nature Publishing Group ;COPYRIGHT 2020 Nature Publishing Group ;2019© Springer Nature Limited 2019 ;Springer Nature Limited 2019. ;ISSN: 1471-0072 ;EISSN: 1471-0080 ;DOI: 10.1038/s41580-019-0185-4 ;PMID: 31768005Full text available |
| 3 |
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The physiology of alternative splicingNature reviews. Molecular cell biology, 2023-04, Vol.24 (4), p.242-254 [Peer Reviewed Journal]2022. Springer Nature Limited. ;Springer Nature Limited 2022. Springer Nature or its licensor holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law. ;ISSN: 1471-0072 ;EISSN: 1471-0080 ;DOI: 10.1038/s41580-022-00545-z ;PMID: 36229538Full text available |
| 4 |
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Inferring the molecular and phenotypic impact of amino acid variants with MutPred2Nature communications, 2020-11, Vol.11 (1), p.5918-13, Article 5918 [Peer Reviewed Journal]The Author(s) 2020. 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) 2020 ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-020-19669-x ;PMID: 33219223Full text available |
| 5 |
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Mechanisms of muscle atrophy and hypertrophy: implications in health and diseaseNature communications, 2021-01, Vol.12 (1), p.330-12, Article 330 [Peer Reviewed Journal]The Author(s) 2021. 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) 2021 ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-020-20123-1 ;PMID: 33436614Full text available |
| 6 |
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The molecular basis and disease relevance of non-homologous DNA end joiningNature reviews. Molecular cell biology, 2020-12, Vol.21 (12), p.765-781 [Peer Reviewed Journal]COPYRIGHT 2020 Nature Publishing Group ;Springer Nature Limited 2020. ;ISSN: 1471-0072 ;EISSN: 1471-0080 ;DOI: 10.1038/s41580-020-00297-8 ;PMID: 33077885Full text available |
| 7 |
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Therapeutic AAV Gene Transfer to the Nervous System: A Clinical RealityNeuron (Cambridge, Mass.), 2019-03, Vol.101 (5), p.839-862 [Peer Reviewed Journal]2019 ;Copyright © 2019. Published by Elsevier Inc. ;Copyright Elsevier Limited Mar 6, 2019 ;ISSN: 0896-6273 ;EISSN: 1097-4199 ;DOI: 10.1016/j.neuron.2019.02.017 ;PMID: 30844402Full text available |
| 8 |
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Potential disease-modifying therapies for Huntington's disease: lessons learned and future opportunitiesLancet neurology, 2022-07, Vol.21 (7), p.645-658 [Peer Reviewed Journal]2022 Elsevier Ltd ;Copyright © 2022 Elsevier Ltd. All rights reserved. ;2022. Elsevier Ltd ;ISSN: 1474-4422 ;EISSN: 1474-4465 ;DOI: 10.1016/S1474-4422(22)00121-1 ;PMID: 35716694Full text available |
| 9 |
Material Type: Article
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β-ThalassemiasThe New England journal of medicine, 2021-02, Vol.384 (8), p.727-743 [Peer Reviewed Journal]Copyright © 2021 Massachusetts Medical Society. All rights reserved. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMra2021838 ;PMID: 33626255Full text available |
| 10 |
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Two-year results from an open-label, multicentre, phase III study evaluating the safety and efficacy of canakinumab in patients with cryopyrin-associated periodic syndrome across different severity phenotypesAnnals of the rheumatic diseases, 2011-12, Vol.70 (12), p.2095-2102 [Peer Reviewed Journal]Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions ;2015 INIST-CNRS ;Copyright: 2011 Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions ;ISSN: 0003-4967 ;EISSN: 1468-2060 ;DOI: 10.1136/ard.2011.152728 ;PMID: 21859692 ;CODEN: ARDIAOFull text available |
| 11 |
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Diagnostic and therapeutic value of human serpin family proteinsBiomedicine & pharmacotherapy, 2024-06, Vol.175, p.116618-116618, Article 116618 [Peer Reviewed Journal]2024 ;Copyright © 2024. Published by Elsevier Masson SAS. ;ISSN: 0753-3322 ;EISSN: 1950-6007 ;DOI: 10.1016/j.biopha.2024.116618 ;PMID: 38678961Full text available |
| 12 |
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Long‐term expanding human airway organoids for disease modelingThe EMBO journal, 2019-02, Vol.38 (4), p.n/a [Peer Reviewed Journal]2019 The Authors. Published under the terms of the CC BY NC ND 4.0 license ;2019 The Authors. Published under the terms of the CC BY NC ND 4.0 license. ;2019 EMBO ;ISSN: 0261-4189 ;EISSN: 1460-2075 ;DOI: 10.15252/embj.2018100300 ;PMID: 30643021Full text available |
| 13 |
Material Type: Article
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Phase 1 Trial of an RNA Interference Therapy for Acute Intermittent PorphyriaThe New England journal of medicine, 2019-02, Vol.380 (6), p.549-558 [Peer Reviewed Journal]Copyright © 2019 Massachusetts Medical Society. All rights reserved. ;ISSN: 0028-4793 ;ISSN: 1533-4406 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa1807838 ;PMID: 30726693Full text available |
| 14 |
Material Type: Article
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Structures of fibrils formed by α-synuclein hereditary disease mutant H50Q reveal new polymorphsNature structural & molecular biology, 2019-11, Vol.26 (11), p.1044-1052 [Peer Reviewed Journal]Copyright Nature Publishing Group Nov 2019 ;ISSN: 1545-9993 ;EISSN: 1545-9985 ;DOI: 10.1038/s41594-019-0322-y ;PMID: 31695184Full text available |
| 15 |
Material Type: Article
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Noonan syndromeThe Lancet (British edition), 2013-01, Vol.381 (9863), p.333-342 [Peer Reviewed Journal]Elsevier Ltd ;2013 Elsevier Ltd ;2014 INIST-CNRS ;Copyright © 2013 Elsevier Ltd. All rights reserved. ;Copyright Elsevier Limited Jan 26, 2013 ;ISSN: 0140-6736 ;EISSN: 1474-547X ;DOI: 10.1016/S0140-6736(12)61023-X ;PMID: 23312968 ;CODEN: LANCAOFull text available |
| 16 |
Material Type: Article
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Elucidating the Role of TREM2 in Alzheimer’s DiseaseNeuron (Cambridge, Mass.), 2017-04, Vol.94 (2), p.237-248 [Peer Reviewed Journal]2017 Elsevier Inc. ;Copyright © 2017 Elsevier Inc. All rights reserved. ;Copyright Elsevier Limited Apr 19, 2017 ;ISSN: 0896-6273 ;EISSN: 1097-4199 ;DOI: 10.1016/j.neuron.2017.02.042 ;PMID: 28426958Full text available |
| 17 |
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Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature reviewOrphanet journal of rare diseases, 2017-07, Vol.12 (1), p.124-124, Article 124 [Peer Reviewed Journal]COPYRIGHT 2017 BioMed Central Ltd. ;COPYRIGHT 2017 BioMed Central Ltd. ;Copyright BioMed Central 2017 ;The Author(s). 2017 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-017-0671-8 ;PMID: 28676062Full text available |
| 18 |
Material Type: Article
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Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQThe New England journal of medicine, 2013-05, Vol.368 (21), p.1971-1979 [Peer Reviewed Journal]Copyright © 2013 Massachusetts Medical Society. All rights reserved. ;2014 INIST-CNRS ;Copyright © 2013 Massachusetts Medical Society. 2013 ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa1213507 ;PMID: 23656586 ;CODEN: NEJMAGFull text available |
| 19 |
Material Type: Article
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Splicing mutations in human genetic disorders: examples, detection, and confirmationJournal of applied genetics, 2018-08, Vol.59 (3), p.253-268 [Peer Reviewed Journal]The Author(s) 2018 ;ISSN: 1234-1983 ;EISSN: 2190-3883 ;DOI: 10.1007/s13353-018-0444-7Digital Resources/Online E-Resources |
| 20 |
Material Type: Article
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Transcriptional analysis of cystic fibrosis airways at single-cell resolution reveals altered epithelial cell states and compositionNature medicine, 2021-05, Vol.27 (5), p.806-814 [Peer Reviewed Journal]COPYRIGHT 2021 Nature Publishing Group ;The Author(s), under exclusive licence to Springer Nature America, Inc. 2021. ;ISSN: 1078-8956 ;EISSN: 1546-170X ;DOI: 10.1038/s41591-021-01332-7 ;PMID: 33958799Full text available |
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