Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Article
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Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trialThe Lancet (British edition), 2017-08, Vol.390 (10097), p.849-860 [Peer Reviewed Journal]2017 Elsevier Ltd ;Copyright © 2017 Elsevier Ltd. All rights reserved. ;Copyright Elsevier Limited Aug 26, 2017 ;ISSN: 0140-6736 ;EISSN: 1474-547X ;DOI: 10.1016/S0140-6736(17)31868-8 ;PMID: 28712537Full text available |
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2 |
Material Type: Article
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Neutrophils as emerging therapeutic targetsNature reviews. Drug discovery, 2020-04, Vol.19 (4), p.253-275 [Peer Reviewed Journal]COPYRIGHT 2020 Nature Publishing Group ;COPYRIGHT 2020 Nature Publishing Group ;Springer Nature Limited 2020. ;ISSN: 1474-1776 ;EISSN: 1474-1784 ;DOI: 10.1038/s41573-019-0054-z ;PMID: 31969717Full text available |
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3 |
Material Type: Article
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Comorbidity of fetal alcohol spectrum disorder: a systematic review and meta-analysisThe Lancet (British edition), 2016-03, Vol.387 (10022), p.978-987 [Peer Reviewed Journal]Elsevier Ltd ;2016 Elsevier Ltd ;Copyright © 2016 Elsevier Ltd. All rights reserved. ;Copyright Elsevier Limited Mar 5, 2016 ;ISSN: 0140-6736 ;EISSN: 1474-547X ;DOI: 10.1016/S0140-6736(15)01345-8 ;PMID: 26777270 ;CODEN: LANCAOFull text available |
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4 |
Material Type: Article
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Male infertilityThe Lancet (British edition), 2021-01, Vol.397 (10271), p.319-333 [Peer Reviewed Journal]2021 Elsevier Ltd ;Copyright © 2021 Elsevier Ltd. All rights reserved. ;2021. Elsevier Ltd ;ISSN: 0140-6736 ;EISSN: 1474-547X ;DOI: 10.1016/S0140-6736(20)32667-2 ;PMID: 33308486Full text available |
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5 |
Material Type: Article
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Social determinants of health and outcomes for children and adults with congenital heart disease: a systematic reviewPediatric research, 2021-01, Vol.89 (2), p.275-294 [Peer Reviewed Journal]International Pediatric Research Foundation, Inc 2020. ;ISSN: 0031-3998 ;EISSN: 1530-0447 ;DOI: 10.1038/s41390-020-01196-6 ;PMID: 33069160Full text available |
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6 |
Material Type: Article
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InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP GuidelinesAmerican journal of human genetics, 2017-02, Vol.100 (2), p.267-280 [Peer Reviewed Journal]2017 American Society of Human Genetics ;Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Feb 2, 2017 ;2017 American Society of Human Genetics. 2017 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2017.01.004 ;PMID: 28132688Full text available |
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7 |
Material Type: Article
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Chromothripsis as an on-target consequence of CRISPR-Cas9 genome editingNature genetics, 2021-06, Vol.53 (6), p.895-905 [Peer Reviewed Journal]COPYRIGHT 2021 Nature Publishing Group ;Copyright Nature Publishing Group Jun 2021 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/s41588-021-00838-7 ;PMID: 33846636Full text available |
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8 |
Material Type: Article
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Interferons and Proinflammatory Cytokines in Pregnancy and Fetal DevelopmentImmunity (Cambridge, Mass.), 2018-09, Vol.49 (3), p.397-412 [Peer Reviewed Journal]2018 Elsevier Inc. ;Copyright © 2018 Elsevier Inc. All rights reserved. ;Copyright Elsevier Limited Sep 18, 2018 ;ISSN: 1074-7613 ;EISSN: 1097-4180 ;DOI: 10.1016/j.immuni.2018.07.017 ;PMID: 30231982Full text available |
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9 |
Material Type: Article
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Muscular dystrophiesThe Lancet (British edition), 2019-11, Vol.394 (10213), p.2025-2038 [Peer Reviewed Journal]2019 Elsevier Ltd ;Copyright © 2019 Elsevier Ltd. All rights reserved. ;2019. Elsevier Ltd ;ISSN: 0140-6736 ;EISSN: 1474-547X ;DOI: 10.1016/S0140-6736(19)32910-1 ;PMID: 31789220Full text available |
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10 |
Material Type: Article
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Combinatorial design of nanoparticles for pulmonary mRNA delivery and genome editingNature biotechnology, 2023-10, Vol.41 (10), p.1410-1415 [Peer Reviewed Journal]2023. The Author(s), under exclusive licence to Springer Nature America, Inc. ;The Author(s), under exclusive licence to Springer Nature America, Inc. 2023. Springer Nature or its licensor (e.g. a society or other partner) 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: 1087-0156 ;EISSN: 1546-1696 ;DOI: 10.1038/s41587-023-01679-x ;PMID: 36997680Full text available |
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11 |
Material Type: Article
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The Global Burden of Cardiovascular Diseases and Risk Factors: 2020 and BeyondJournal of the American College of Cardiology, 2019-11, Vol.74 (20), p.2529-2532 [Peer Reviewed Journal]2019 American College of Cardiology Foundation ;2019. American College of Cardiology Foundation ;ISSN: 0735-1097 ;EISSN: 1558-3597 ;DOI: 10.1016/j.jacc.2019.10.009 ;PMID: 31727292Full text available |
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12 |
Material Type: Article
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Infective endocarditisThe Lancet (British edition), 2016-02, Vol.387 (10021), p.882-893 [Peer Reviewed Journal]Elsevier Ltd ;2016 Elsevier Ltd ;Copyright © 2016 Elsevier Ltd. All rights reserved. ;Copyright Elsevier Limited Feb 27, 2016 ;ISSN: 0140-6736 ;EISSN: 1474-547X ;DOI: 10.1016/S0140-6736(15)00067-7 ;PMID: 26341945 ;CODEN: LANCAOFull text available |
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13 |
Material Type: Article
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Genomic frontiers in congenital heart diseaseNature reviews cardiology, 2022-01, Vol.19 (1), p.26-42 [Peer Reviewed Journal]2021. Springer Nature Limited. ;Springer Nature Limited 2021. ;ISSN: 1759-5002 ;EISSN: 1759-5010 ;DOI: 10.1038/s41569-021-00587-4 ;PMID: 34272501Full text available |
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14 |
Material Type: Article
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Glomerular hyperfiltrationNature reviews. Nephrology, 2022-07, Vol.18 (7), p.435-451 [Peer Reviewed Journal]2022. Springer Nature Limited. ;Springer Nature Limited 2022. ;ISSN: 1759-5061 ;EISSN: 1759-507X ;DOI: 10.1038/s41581-022-00559-y ;PMID: 35365815Full text available |
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15 |
Material Type: Article
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Detection and interpretation of shared genetic influences on 42 human traitsNature genetics, 2016-07, Vol.48 (7), p.709-717 [Peer Reviewed Journal]COPYRIGHT 2016 Nature Publishing Group ;COPYRIGHT 2016 Nature Publishing Group ;Copyright Nature Publishing Group Jul 2016 ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.3570 ;PMID: 27182965Full text available |
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16 |
Material Type: Article
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Underlying Medical Conditions Associated With Severe COVID-19 Illness Among ChildrenJAMA Network Open, 2021-06, Vol.4 (6), p.e2111182-e2111182 [Peer Reviewed Journal]2021. 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. ;Copyright 2021 Kompaniyets L et al. . ;ISSN: 2574-3805 ;EISSN: 2574-3805 ;DOI: 10.1001/jamanetworkopen.2021.11182 ;PMID: 34097050Full text available |
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17 |
Material Type: Article
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Congenital Adrenal Hyperplasia Due to 21-Hydroxylase DeficiencyThe 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/NEJMra1909786Full text available |
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18 |
Material Type: Article
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Genetics and Genomics of Congenital Heart DiseaseCirculation research, 2017-03, Vol.120 (6), p.923-940 [Peer Reviewed Journal]2017 American Heart Association, Inc. ;Copyright Lippincott Williams & Wilkins Ovid Technologies Mar 17, 2017 ;ISSN: 0009-7330 ;EISSN: 1524-4571 ;DOI: 10.1161/circresaha.116.309140 ;PMID: 28302740Full text available |
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19 |
Material Type: Article
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Molecular findings from 537 individuals with inherited retinal diseaseJournal of medical genetics, 2016-11, Vol.53 (11), p.761-767 [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://www.bmj.com/company/products-services/rights-and-licensing ;Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/. ;Copyright: 2016 Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing ;Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/ 2016 ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2016-103837 ;PMID: 27208204 ;CODEN: JMDGAEFull text available |
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20 |
Material Type: Article
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The mechanisms of Hedgehog signalling and its roles in development and diseaseNature reviews. Molecular cell biology, 2013-07, Vol.14 (7), p.416-429 [Peer Reviewed Journal]COPYRIGHT 2013 Nature Publishing Group ;COPYRIGHT 2013 Nature Publishing Group ;Copyright Nature Publishing Group Jul 2013 ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 1471-0072 ;EISSN: 1471-0080 ;DOI: 10.1038/nrm3598 ;PMID: 23719536Full text available |