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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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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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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 |
| 3 |
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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 |
| 4 |
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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 |
| 5 |
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Pulmonary Arterial HypertensionThe New England journal of medicine, 2021-12, Vol.385 (25), p.2361-2376 [Peer Reviewed Journal]Copyright © 2021 Massachusetts Medical Society. All rights reserved. ;COPYRIGHT 2021 Massachusetts Medical Society ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMra2000348 ;PMID: 34910865Full text available |
| 6 |
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De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomaliesScience (American Association for the Advancement of Science), 2015-12, Vol.350 (6265), p.1262-1266 [Peer Reviewed Journal]Copyright © 2015 American Association for the Advancement of Science ;Copyright © 2015, American Association for the Advancement of Science. ;Copyright © 2015, American Association for the Advancement of Science ;ISSN: 0036-8075 ;EISSN: 1095-9203 ;DOI: 10.1126/science.aac9396 ;PMID: 26785492 ;CODEN: SCIEASDigital Resources/Online E-Resources |
| 7 |
Material Type: Article
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A map of constrained coding regions in the human genomeNature genetics, 2019-01, Vol.51 (1), p.88-95 [Peer Reviewed Journal]COPYRIGHT 2019 Nature Publishing Group ;Copyright Nature Publishing Group Jan 2019 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/s41588-018-0294-6 ;PMID: 30531870Full text available |
| 8 |
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The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomaliesNature genetics, 2017-01, Vol.49 (1), p.36-45 [Peer Reviewed Journal]COPYRIGHT 2017 Nature Publishing Group ;COPYRIGHT 2017 Nature Publishing Group ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.3720 ;PMID: 27841880Full text available |
| 9 |
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Congenital adrenal hyperplasiaThe Lancet (British edition), 2017-11, Vol.390 (10108), p.2194-2210 [Peer Reviewed Journal]Elsevier Ltd ;2017 Elsevier Ltd ;Copyright © 2017 Elsevier Ltd. All rights reserved. ;Copyright Elsevier Limited Nov 11, 2017 ;ISSN: 0140-6736 ;EISSN: 1474-547X ;DOI: 10.1016/S0140-6736(17)31431-9 ;PMID: 28576284Full text available |
| 10 |
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Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous MalformationAmerican journal of human genetics, 2017-03, Vol.100 (3), p.546-554 [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 Mar 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.2017.01.018 ;PMID: 28190454Full text available |
| 11 |
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Physiology of Intestinal Absorption and SecretionBaillière's best practice & research. Clinical gastroenterology, 2016-04, Vol.30 (2), p.145 [Peer Reviewed Journal]Copyright © 2016 Elsevier Ltd. All rights reserved. ;Copyright Elsevier Limited Apr 2016 ;ISSN: 1521-6918 ;EISSN: 1532-1916 ;DOI: 10.1016/j.bpg.2016.02.007 ;PMID: 27086882 ;CODEN: BPRCB6Digital Resources/Online E-Resources |
| 12 |
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 |
| 13 |
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 |
| 14 |
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 |
| 15 |
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 |
| 16 |
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 |
| 17 |
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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 |
| 18 |
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 |
| 19 |
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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 |
| 20 |
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 |
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