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| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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| 21 |
Material Type: Article
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Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysisOrphanet journal of rare diseases, 2020-06, Vol.15 (1), p.1-141, Article 141 [Peer Reviewed Journal]COPYRIGHT 2020 BioMed Central Ltd. ;2020. This work is licensed 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. ;Attribution ;The Author(s) 2020 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-020-01430-8 ;PMID: 32503598Full text available |
| 22 |
Material Type: Article
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Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probandsNature genetics, 2017-11, Vol.49 (11), p.1593-1601 [Peer Reviewed Journal]COPYRIGHT 2017 Nature Publishing Group ;COPYRIGHT 2017 Nature Publishing Group ;Copyright Nature Publishing Group Nov 2017 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.3970 ;PMID: 28991257Full text available |
| 23 |
Material Type: Article
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Congenital myopathies: disorders of excitation-contraction coupling and muscle contractionNature reviews. Neurology, 2018-03, Vol.14 (3), p.151-167 [Peer Reviewed Journal]COPYRIGHT 2018 Nature Publishing Group ;COPYRIGHT 2018 Nature Publishing Group ;Copyright Nature Publishing Group Mar 2018 ;ISSN: 1759-4758 ;EISSN: 1759-4766 ;DOI: 10.1038/nrneurol.2017.191 ;PMID: 29391587Full text available |
| 24 |
Material Type: Article
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Uveal melanomaNature reviews. Disease primers, 2020-04, Vol.6 (1), p.24-24, Article 24 [Peer Reviewed Journal]Springer Nature Limited 2020. ;Springer Nature Limited 2020. corrected publication 2022. ;ISSN: 2056-676X ;EISSN: 2056-676X ;DOI: 10.1038/s41572-020-0158-0 ;PMID: 32273508Full text available |
| 25 |
Material Type: Article
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The role of thyroglobulin in thyroid hormonogenesisNature reviews. Endocrinology, 2019-06, Vol.15 (6), p.323-338 [Peer Reviewed Journal]COPYRIGHT 2019 Nature Publishing Group ;2019© Springer Nature Limited 2019 ;ISSN: 1759-5029 ;EISSN: 1759-5037 ;DOI: 10.1038/s41574-019-0184-8 ;PMID: 30886364Full text available |
| 26 |
Material Type: Article
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The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK PathwayEndocrine reviews, 2018-10, Vol.39 (5), p.676-700 [Peer Reviewed Journal]Copyright © 2018 Endocrine Society 2018 ;Copyright © Oxford University Press 2015 ;COPYRIGHT 2018 Oxford University Press ;Copyright © 2018 Endocrine Society ;ISSN: 0163-769X ;EISSN: 1945-7189 ;DOI: 10.1210/er.2017-00232 ;PMID: 29924299Full text available |
| 27 |
Material Type: Article
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Current molecular and clinical insights into uveal melanoma (Review)International journal of oncology, 2021-04, Vol.58 (4), p.1, Article 10COPYRIGHT 2021 Spandidos Publications ;Copyright Spandidos Publications UK Ltd. 2021 ;Copyright: © Fallico et al. 2021 ;ISSN: 1019-6439 ;EISSN: 1791-2423 ;DOI: 10.3892/ijo.2021.5190 ;PMID: 33649778Full text available |
| 28 |
Material Type: Article
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Global genetic analysis in mice unveils central role for cilia in congenital heart diseaseNature (London), 2015-05, Vol.521 (7553), p.520-524 [Peer Reviewed Journal]COPYRIGHT 2015 Nature Publishing Group ;COPYRIGHT 2015 Nature Publishing Group ;Copyright Nature Publishing Group May 28, 2015 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/nature14269 ;PMID: 25807483 ;CODEN: NATUASFull text available |
| 29 |
Material Type: Article
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Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencingNature genetics, 2016-09, Vol.48 (9), p.1060-1065 [Peer Reviewed Journal]COPYRIGHT 2016 Nature Publishing Group ;COPYRIGHT 2016 Nature Publishing Group ;Copyright Nature Publishing Group Sep 2016 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.3627 ;PMID: 27479907Full text available |
| 30 |
Material Type: Article
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BS9 KMT2C- a tetralogy of fallot candidate geneHeart (British Cardiac Society), 2019-05, Vol.105 (Suppl 6), p.A145 [Peer Reviewed Journal]2019, 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 ;2019 2019, 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: 1355-6037 ;EISSN: 1468-201X ;DOI: 10.1136/heartjnl-2019-BCS.173Full text available |
| 31 |
Material Type: Article
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A roadmap for the Human Developmental Cell AtlasNature (London), 2021-09, Vol.597 (7875), p.196-205 [Peer Reviewed Journal]2021. Springer Nature Limited. ;Copyright Nature Publishing Group Sep 9, 2021 ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0028-0836 ;ISSN: 1476-4687 ;EISSN: 1476-4687 ;DOI: 10.1038/s41586-021-03620-1 ;PMID: 34497388Full text available |
| 32 |
Material Type: Article
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Psychological impact of motor impairment in tow forms of congenital muscular dystrophyEuropean psychiatry, 2023-03, Vol.66 (S1), p.S733-S733 [Peer Reviewed Journal]The Author(s), 2023. Published by Cambridge University Press on behalf of the European Psychiatric Association. This work is licensed under the Creative Commons Attribution License This is an Open Access article, distributed under the terms of the Creative Commons Attribution licence (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted re-use, distribution, and reproduction in any medium, provided the original work is properly cited. (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 2023 The Author(s) ;ISSN: 0924-9338 ;EISSN: 1778-3585 ;DOI: 10.1192/j.eurpsy.2023.1539Full text available |
| 33 |
Material Type: Article
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ISSVA Classification of Vascular Anomalies and Molecular BiologyInternational journal of molecular sciences, 2022-02, Vol.23 (4), p.2358 [Peer Reviewed Journal]2022 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 (https://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. ;2022 by the authors. 2022 ;ISSN: 1422-0067 ;ISSN: 1661-6596 ;EISSN: 1422-0067 ;DOI: 10.3390/ijms23042358 ;PMID: 35216474Full text available |
| 34 |
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 |
| 35 |
Material Type: Article
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Diagnosis, management and therapeutic strategies for congenital long QT syndromeHeart (British Cardiac Society), 2022-03, Vol.108 (5), p.332-338 [Peer Reviewed Journal]Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY. Published by BMJ. ;Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY. Published by BMJ. ;2022 Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY. Published by BMJ. https://creativecommons.org/licenses/by/4.0/ This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://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. ;Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY. Published by BMJ. 2022 ;ISSN: 1355-6037 ;EISSN: 1468-201X ;DOI: 10.1136/heartjnl-2020-318259 ;PMID: 34039680Full text available |
| 36 |
Material Type: Article
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p63 is a cereblon substrate involved in thalidomide teratogenicityNature chemical biology, 2019-11, Vol.15 (11), p.1077-1084 [Peer Reviewed Journal]Copyright Nature Publishing Group Nov 2019 ;ISSN: 1552-4450 ;EISSN: 1552-4469 ;DOI: 10.1038/s41589-019-0366-7 ;PMID: 31591562Full text available |
| 37 |
Material Type: Article
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Ocular manifestations of Sturge-Weber syndrome: pathogenesis, diagnosis, and managementClinical ophthalmology (Auckland, N.Z.), 2016-01, Vol.10 (Issue 1), p.871-878 [Peer Reviewed Journal]COPYRIGHT 2016 Dove Medical Press Limited ;COPYRIGHT 2016 Dove Medical Press Limited ;2016. This work is licensed under https://creativecommons.org/licenses/by-nc/3.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2016 Mantelli et al. This work is published and licensed by Dove Medical Press Limited 2016 ;ISSN: 1177-5467 ;ISSN: 1177-5483 ;EISSN: 1177-5483 ;DOI: 10.2147/OPTH.S101963 ;PMID: 27257371Full text available |
| 38 |
Material Type: Article
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The copy number variation landscape of congenital anomalies of the kidney and urinary tractNature genetics, 2019-01, Vol.51 (1), p.117-127 [Peer Reviewed Journal]COPYRIGHT 2019 Nature Publishing Group ;COPYRIGHT 2019 Nature Publishing Group ;Copyright Nature Publishing Group Jan 2019 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/s41588-018-0281-y ;PMID: 30578417Full text available |
| 39 |
Material Type: Article
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Application of prime editing to the correction of mutations and phenotypes in adult mice with liver and eye diseasesNature biomedical engineering, 2022-02, Vol.6 (2), p.181-194 [Peer Reviewed Journal]2021. The Author(s), under exclusive licence to Springer Nature Limited. ;The Author(s), under exclusive licence to Springer Nature Limited 2021. ;ISSN: 2157-846X ;EISSN: 2157-846X ;DOI: 10.1038/s41551-021-00788-9 ;PMID: 34446856Full text available |
| 40 |
Material Type: Article
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Structural insights into the conformational changes of BTR1/SLC4A11 in complex with PIP2Nature communications, 2023-10, Vol.14 (1), p.6157-6157, Article 6157 [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. ;Springer Nature Limited 2023 ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-023-41924-0 ;PMID: 37788993Full text available |
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