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1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	Material Type: Article	Long‐term expanding human airway organoids for disease modeling The 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: 30643021 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
9	Material Type: Article	Phase 1 Trial of an RNA Interference Therapy for Acute Intermittent Porphyria The 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: 30726693 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
10	Material Type: Article	Structures of fibrils formed by α-synuclein hereditary disease mutant H50Q reveal new polymorphs Nature 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: 31695184 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
11	Material Type: Article	Noonan syndrome The 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: LANCAO Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
12	Material Type: Article	Elucidating the Role of TREM2 in Alzheimer’s Disease Neuron (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: 28426958 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
13	Material Type: Article	Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review Orphanet 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: 28676062 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
14	Material Type: Article	Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ The 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: NEJMAG Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
15	Material Type: Article	Splicing mutations in human genetic disorders: examples, detection, and confirmation Journal 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/s13353-018-0444-7 Digital Resources/Online E-Resources View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
16	Material Type: Article	Molecular characterization of thalassemia and hemoglobinopathy in Southeastern China Scientific reports, 2019-03, Vol.9 (1), p.3493-3493, Article 3493 [Peer Reviewed Journal] 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) 2019 ;ISSN: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-019-40089-5 ;PMID: 30837609 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
17	Material Type: Article	Elastic fibers: formation, function, and fate during aging and disease The FEBS journal, 2022-07, Vol.289 (13), p.3704-3730 [Peer Reviewed Journal] 2021 The Authors. published by John Wiley & Sons Ltd on behalf of Federation of European Biochemical Societies. ;2021 The Authors. The FEBS Journal published by John Wiley & Sons Ltd on behalf of Federation of European Biochemical Societies. ;2021. This article 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: 1742-464X ;EISSN: 1742-4658 ;DOI: 10.1111/febs.15899 ;PMID: 33896108 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
18	Material Type: Article	A gain-of-function TPC2 variant R210C increases affinity to PI(3,5)P2 and causes lysosome acidification and hypopigmentation Nature communications, 2023-01, Vol.14 (1), p.226-226, Article 226 [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: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-023-35786-9 ;PMID: 36641477 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
19	Material Type: Article	Transcriptional analysis of cystic fibrosis airways at single-cell resolution reveals altered epithelial cell states and composition Nature 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: 33958799 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
20	Material Type: Article	Nusinersen: First Global Approval Drugs (New York, N.Y.), 2017-03, Vol.77 (4), p.473-479 [Peer Reviewed Journal] Springer International Publishing Switzerland 2017 ;Copyright Springer Science & Business Media Mar 2017 ;ISSN: 0012-6667 ;EISSN: 1179-1950 ;DOI: 10.1007/s40265-017-0711-7 ;PMID: 28229309 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by

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Results 1 - 20 of 3,631 for All Library Resources

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

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

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

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: 30643021

Copyright © 2019 Massachusetts Medical Society. All rights reserved. ;ISSN: 0028-4793 ;ISSN: 1533-4406 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa1807838 ;PMID: 30726693

Copyright Nature Publishing Group Nov 2019 ;ISSN: 1545-9993 ;EISSN: 1545-9985 ;DOI: 10.1038/s41594-019-0322-y ;PMID: 31695184

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: LANCAO

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: 28426958

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: 28676062

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: NEJMAG

The Author(s) 2018 ;ISSN: 1234-1983 ;EISSN: 2190-3883 ;DOI: 10.1007/s13353-018-0444-7

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: 33958799

Springer International Publishing Switzerland 2017 ;Copyright Springer Science & Business Media Mar 2017 ;ISSN: 0012-6667 ;EISSN: 1179-1950 ;DOI: 10.1007/s40265-017-0711-7 ;PMID: 28229309

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