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1	Material Type: Article	The gasdermins, a protein family executing cell death and inflammation Nature 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: 31690840 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
2	Material Type: Article	Lysosomes as dynamic regulators of cell and organismal homeostasis Nature 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: 31768005 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
3	Material Type: Article	Diagnostic and therapeutic value of human serpin family proteins Biomedicine & 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: 38678961 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
4	Material Type: Article	Sorting ultracold atoms in a three-dimensional optical lattice in a realization of Maxwell's demon Nature (London), 2018-09, Vol.561 (7721), p.83-87 [Peer Reviewed Journal] Copyright Nature Publishing Group Sep 6, 2018 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/s41586-018-0458-7 ;PMID: 30185956 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
5	Material Type: Article	The physiology of alternative splicing Nature 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: 36229538 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
6	Material Type: Article	Inferring the molecular and phenotypic impact of amino acid variants with MutPred2 Nature 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: 33219223 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
7	Material Type: Article	The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting Human genetics, 2020-10, Vol.139 (10), p.1197-1207 [Peer Reviewed Journal] The Author(s) 2020 ;COPYRIGHT 2020 Springer ;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. ;ISSN: 0340-6717 ;EISSN: 1432-1203 ;DOI: 10.1007/s00439-020-02199-3 ;PMID: 32596782 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
8	Material Type: Article	Mechanisms of muscle atrophy and hypertrophy: implications in health and disease Nature 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: 33436614 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
9	Material Type: Article	Medication-related osteonecrosis of jaws revisited through the bone inherited disorders: what do we know? Journal of oral medicine and oral surgery, 2021, Vol.27 (2), p.E2 [Peer Reviewed Journal] 2021. This work is licensed under https://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. ;ISSN: 2608-1326 ;EISSN: 2608-1326 ;DOI: 10.1051/mbcb/2021015 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
10	Material Type: Article	The molecular basis and disease relevance of non-homologous DNA end joining Nature 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: 33077885 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
11	Material Type: Article	Janus Kinase Inhibition in the Aicardi–Goutières Syndrome The New England journal of medicine, 2020-09, Vol.383 (10), p.986-989 [Peer Reviewed Journal] Copyright © 2020 Massachusetts Medical Society. All rights reserved. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMc2001362 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
12	Material Type: Article	Evaluation of CNV detection tools for NGS panel data in genetic diagnostics European journal of human genetics : EJHG, 2020-12, Vol.28 (12), p.1645-1655 [Peer Reviewed Journal] The Author(s) 2020. This work is published under https://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: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/s41431-020-0675-z ;PMID: 32561899 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
13	Material Type: Article	Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency The New England journal of medicine, 2020-09, Vol.383 (13), p.1248-1261 [Peer Reviewed Journal] Copyright © 2020 Massachusetts Medical Society. All rights reserved. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMra1909786 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
14	Material Type: Article	Unfolding of a ClC chloride transporter retains memory of its evolutionary history Nature chemical biology, 2018-05, Vol.14 (5), p.489-496 [Peer Reviewed Journal] Copyright Nature Publishing Group May 2018 ;ISSN: 1552-4450 ;EISSN: 1552-4469 ;DOI: 10.1038/s41589-018-0025-4 ;PMID: 29581582 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
15	Material Type: Article	Therapeutic AAV Gene Transfer to the Nervous System: A Clinical Reality Neuron (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: 30844402 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
16	Material Type: Article	Potential disease-modifying therapies for Huntington's disease: lessons learned and future opportunities Lancet 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: 35716694 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
17	Material Type: Article	Gene therapy for alopecia in type II rickets model rats using vitamin D receptor-expressing adenovirus vector Scientific reports, 2023-10, Vol.13 (1), p.18528-18528, Article 18528 [Peer Reviewed Journal] The Author(s) 2023. 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) 2023 ;ISSN: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-023-45594-2 ;PMID: 37898650 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
18	Material Type: Article	P02 Development and validation of a Novel ICP-MS method to quantify different copper species in human plasma from patients with wilson disease Gut, 2022-09, Vol.71 (Suppl 3), p.A32-A32 [Peer Reviewed Journal] Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ. ;2022 Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 0017-5749 ;EISSN: 1468-3288 ;DOI: 10.1136/gutjnl-2022-BASL.53 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
19	Material Type: Article	β-Thalassemias The 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: 33626255 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
20	Material Type: Article	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 phenotypes Annals 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: ARDIAO Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by

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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: 31690840

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: 31768005

2024 ;Copyright © 2024. Published by Elsevier Masson SAS. ;ISSN: 0753-3322 ;EISSN: 1950-6007 ;DOI: 10.1016/j.biopha.2024.116618 ;PMID: 38678961

Copyright Nature Publishing Group Sep 6, 2018 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/s41586-018-0458-7 ;PMID: 30185956

2021. This work is licensed under https://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. ;ISSN: 2608-1326 ;EISSN: 2608-1326 ;DOI: 10.1051/mbcb/2021015

COPYRIGHT 2020 Nature Publishing Group ;Springer Nature Limited 2020. ;ISSN: 1471-0072 ;EISSN: 1471-0080 ;DOI: 10.1038/s41580-020-00297-8 ;PMID: 33077885

Copyright © 2020 Massachusetts Medical Society. All rights reserved. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMc2001362

Copyright © 2020 Massachusetts Medical Society. All rights reserved. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMra1909786

Copyright Nature Publishing Group May 2018 ;ISSN: 1552-4450 ;EISSN: 1552-4469 ;DOI: 10.1038/s41589-018-0025-4 ;PMID: 29581582

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: 30844402

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: 35716694

Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ. ;2022 Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 0017-5749 ;EISSN: 1468-3288 ;DOI: 10.1136/gutjnl-2022-BASL.53

Copyright © 2021 Massachusetts Medical Society. All rights reserved. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMra2021838 ;PMID: 33626255

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