Results 1 - 20 of 61 for All Library Resources
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| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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Genetic aetiology of early infant deaths in a neonatal intensive care unitJournal of medical genetics, 2020-03, Vol.57 (3), p.169-177 [Peer Reviewed Journal]Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ. ;2020 Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2019-106221 ;PMID: 31501239Full text available |
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Associations and interaction effects of maternal smoking and genetic polymorphisms of cytochrome P450 genes with risk of congenital heart disease in offspring: A case-control studyMedicine (Baltimore), 2021-06, Vol.100 (23), p.e26268 [Peer Reviewed Journal]Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc. ;Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc. 2021 ;ISSN: 0025-7974 ;EISSN: 1536-5964 ;DOI: 10.1097/MD.0000000000026268 ;PMID: 34115022Full text available |
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The risk for four specific congenital heart defects associated with assisted reproductive techniques: a population-based evaluationHuman reproduction (Oxford), 2013-02, Vol.28 (2), p.367-374 [Peer Reviewed Journal]The Author 2012. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oup.com 2012 ;ISSN: 0268-1161 ;EISSN: 1460-2350 ;DOI: 10.1093/humrep/des400 ;PMID: 23178272Full text available |
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Fetal cardiac effects of maternal hyperglycemia during pregnancyBirth defects research. A Clinical and molecular teratology, 2009-06, Vol.85 (6), p.523-530 [Peer Reviewed Journal]Copyright © 2009 Wiley‐Liss, Inc. ;ISSN: 1542-0752 ;EISSN: 1542-0760 ;DOI: 10.1002/bdra.20567 ;PMID: 19180650Full text available |
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A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutationsOrphanet journal of rare diseases, 2013-06, Vol.8 (1), p.84-84 [Peer Reviewed Journal]2013 Banka and Newman; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. ;Copyright © 2013 Banka and Newman; licensee BioMed Central Ltd. 2013 Banka and Newman; licensee BioMed Central Ltd. ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/1750-1172-8-84 ;PMID: 23758768Full text available |
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Modification of the association between maternal smoke exposure and congenital heart defects by polymorphisms in glutathione S-transferase genesScientific reports, 2015-10, Vol.5 (1), p.14915-14915, Article 14915 [Peer Reviewed Journal]Copyright Nature Publishing Group Oct 2015 ;Copyright © 2015, Macmillan Publishers Limited 2015 Macmillan Publishers Limited ;ISSN: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/srep14915 ;PMID: 26456689Full text available |
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Do mitochondria contribute to left ventricular non-compaction cardiomyopathy? New findings from myocardium of patients with left ventricular non-compaction cardiomyopathyMolecular genetics and metabolism, 2013-05, Vol.109 (1), p.100 [Peer Reviewed Journal]Copyright © 2013 Elsevier Inc. All rights reserved. ;EISSN: 1096-7206 ;DOI: 10.1016/j.ymgme.2013.02.004 ;PMID: 23465694Digital Resources/Online E-Resources |
| 8 |
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A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicingAmerican journal of medical genetics. Part A, 2015-12, Vol.167A (12), p.3006-3010 [Peer Reviewed Journal]2015 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.37343 ;PMID: 26334766Full text available |
| 9 |
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Cytogenomic Evaluation of Subjects with Syndromic and Nonsyndromic Conotruncal Heart DefectsBioMed research international, 2015-01, Vol.2015, p.401941-12 [Peer Reviewed Journal]Copyright © 2015 Karen Regina de Souza et al. ;COPYRIGHT 2015 Hindawi Limited ;Copyright © 2015 Karen Regina de Souza et al. Karen Regina de Souza et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. ;Copyright © 2015 Karen Regina de Souza et al. 2015 ;ISSN: 2314-6133 ;EISSN: 2314-6141 ;DOI: 10.1155/2015/401941 ;PMID: 26137477Full text available |
| 10 |
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ALK2 mutation in a patient with Down's syndrome and a congenital heart defectEuropean journal of human genetics : EJHG, 2011-04, Vol.19 (4), p.389-393 [Peer Reviewed Journal]2015 INIST-CNRS ;Copyright Nature Publishing Group Apr 2011 ;Copyright © 2011 Macmillan Publishers Limited 2011 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2010.224 ;PMID: 21248739Full text available |
| 11 |
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Smoking and Congenital Heart Disease: The Epidemiological and Biological LinkCurrent pharmaceutical design, 2010-08, Vol.16 (23), p.2572-2577 [Peer Reviewed Journal]ISSN: 1381-6128 ;EISSN: 1873-4286 ;DOI: 10.2174/138161210792062849 ;PMID: 20550501Digital Resources/Online E-Resources |
| 12 |
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Cardiac defects and altered ryanodine receptor function in mice lacking FKBP12Nature (London), 1998-01, Vol.391 (6666), p.489-492 [Peer Reviewed Journal]1998 INIST-CNRS ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/35146 ;PMID: 9461216 ;CODEN: NATUASFull text available |
| 13 |
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Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressureBMC genetics, 2012-11, Vol.13 (1), p.104-104, Article 104 [Peer Reviewed Journal]2012 Bendon et al.; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. ;Copyright ©2012 Bendon et al.; licensee BioMed Central Ltd. 2012 Bendon et al.; licensee BioMed Central Ltd. ;ISSN: 1471-2350 ;ISSN: 1471-2156 ;EISSN: 1471-2350 ;EISSN: 1471-2156 ;DOI: 10.1186/1471-2350-13-104 ;PMID: 23140272Full text available |
| 14 |
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Targeted inactivation of plectin reveals essential function in maintaining the integrity of skin, muscle, and heart cytoarchitectureGenes & development, 1997-12, Vol.11 (23), p.3143-3156 [Peer Reviewed Journal]Copyright © 1997, Cold Spring Harbor Laboratory Press 1997 ;ISSN: 0890-9369 ;EISSN: 1549-5477 ;DOI: 10.1101/gad.11.23.3143 ;PMID: 9389647Full text available |
| 15 |
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Cardiac teratogenicity in mouse maternal phenylketonuria: defining phenotype parameters and genetic background influencesMolecular genetics and metabolism, 2012-12, Vol.107 (4), p.650 [Peer Reviewed Journal]Copyright © 2012 Elsevier Inc. All rights reserved. ;EISSN: 1096-7206 ;DOI: 10.1016/j.ymgme.2012.08.001 ;PMID: 22951387Digital Resources/Online E-Resources |
| 16 |
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Rare copy number variants in a population-based investigation of hypoplastic right heart syndromeBirth defects research, 2017-01, Vol.109 (1), p.82016 Wiley Periodicals, Inc. ;EISSN: 2472-1727 ;DOI: 10.1002/bdra.23586 ;PMID: 28009100Digital Resources/Online E-Resources |
| 17 |
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Maternal Environmental Exposure, Infant GSTP1 Polymorphism, and Risk of Isolated Congenital Heart DiseasePediatric cardiology, 2013-02, Vol.34 (2), p.281-285 [Peer Reviewed Journal]Springer Science+Business Media, LLC 2012 ;COPYRIGHT 2013 Springer ;ISSN: 0172-0643 ;EISSN: 1432-1971 ;DOI: 10.1007/s00246-012-0436-z ;PMID: 22815093Full text available |
| 18 |
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Rare copy number variants in a population-based investigation of hypoplastic right heart syndromeISSN: 2472-1727 ;EISSN: 2472-1727 ;DOI: 10.1002/bdra.23586Digital Resources/Online E-Resources |
| 19 |
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Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndromeBirth defects research. A Clinical and molecular teratology, 2009-02, Vol.85 (2), p.125-129 [Peer Reviewed Journal]Copyright © 2008 Wiley‐Liss, Inc. ;(c) 2008 Wiley-Liss, Inc. ;ISSN: 1542-0752 ;EISSN: 1542-0760 ;DOI: 10.1002/bdra.20501 ;PMID: 18770859Full text available |
| 20 |
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Gestational and family risk factors for carriers of congenital heart defects in southern BrazilPediatrics international, 2011-08, Vol.53 (4), p.551-557 [Peer Reviewed Journal]2011 The Authors. Pediatrics International © 2011 Japan Pediatric Society ;2011 The Authors. Pediatrics International © 2011 Japan Pediatric Society. ;ISSN: 1328-8067 ;EISSN: 1442-200X ;DOI: 10.1111/j.1442-200X.2011.03341.x ;PMID: 21342361Full text available |
Results 1 - 20 of 61 for All Library Resources
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