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| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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What is new with 22q? An update from the 22q and You Center at the Children's Hospital of PhiladelphiaAmerican journal of medical genetics. Part A, 2018-10, Vol.176 (10), p.2058 [Peer Reviewed Journal]2018 Wiley Periodicals, Inc. ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.40637 ;PMID: 30380191Digital Resources/Online E-Resources |
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The changing epidemiology of congenital heart diseaseNature reviews cardiology, 2011-01, Vol.8 (1), p.50-60 [Peer Reviewed Journal]COPYRIGHT 2011 Nature Publishing Group ;COPYRIGHT 2011 Nature Publishing Group ;Copyright Nature Publishing Group Jan 2011 ;ISSN: 1759-5002 ;EISSN: 1759-5010 ;DOI: 10.1038/nrcardio.2010.166 ;PMID: 21045784Full text available |
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Analysis of the Seasonal Trend of Congenital Heart DefectsThe Journal of pediatrics, 2019-04, Vol.207, p.29 [Peer Reviewed Journal]Copyright © 2019 Elsevier Inc. All rights reserved. ;EISSN: 1097-6833 ;DOI: 10.1016/j.jpeds.2018.12.024 ;PMID: 30922502Digital Resources/Online E-Resources |
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Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart DefectsAmerican journal of human genetics, 2016-06, Vol.98 (6), p.1235-1242 [Peer Reviewed Journal]2016 American Society of Human Genetics ;Copyright © 2016 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Jun 2, 2016 ;2016 American Society of Human Genetics. 2016 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2016.03.030 ;PMID: 27259054Full text available |
| 5 |
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Association between assisted reproductive technology and cardiac alteration at age 5 yearsJAMA pediatrics, 2015-06, Vol.169 (6), p.603 [Peer Reviewed Journal]EISSN: 2168-6211 ;DOI: 10.1001/jamapediatrics.2015.0214 ;PMID: 25915111Digital Resources/Online E-Resources |
| 6 |
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Survival among people with Down syndrome: a nationwide population-based study in DenmarkGenetics in medicine, 2013-01, Vol.15 (1), p.64-69 [Peer Reviewed Journal]American College of Medical Genetics and Genomics 2013. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2012.93 ;PMID: 22878506Full text available |
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Parental non-hereditary teratogenic exposure factors on the occurrence of congenital heart disease in the offspring in the northeastern Sichuan, ChinaScientific reports, 2020-03, Vol.10 (1), p.3905, Article 3905 [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) 2020 ;ISSN: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-020-60798-6 ;PMID: 32127562Full text available |
| 8 |
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A female patient with X-linked Ohdo syndrome of the Maat-Kievit-Brunner phenotype caused by a novel variant of MED12Congenital anomalies, 2020-05, Vol.60 (3), p.91 [Peer Reviewed Journal]EISSN: 1741-4520 ;DOI: 10.1111/cga.12350 ;PMID: 31322785Digital Resources/Online E-Resources |
| 9 |
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Nationwide Increase in Complex Congenital Heart Diseases After the Fukushima Nuclear AccidentJournal of the American Heart Association, 2019-03, Vol.8 (6), p.e009486 [Peer Reviewed Journal]2019 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley. ;ISSN: 2047-9980 ;EISSN: 2047-9980 ;DOI: 10.1161/jaha.118.009486 ;PMID: 30862223Full text available |
| 10 |
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Prevalence and risk factors of congenital heart defects among live births: a population-based cross-sectional survey in Shaanxi province, Northwestern ChinaBMC pediatrics, 2017-01, Vol.17 (1), p.18-18, Article 18 [Peer Reviewed Journal]COPYRIGHT 2017 BioMed Central Ltd. ;COPYRIGHT 2017 BioMed Central Ltd. ;Copyright BioMed Central 2017 ;The Author(s). 2017 ;ISSN: 1471-2431 ;EISSN: 1471-2431 ;DOI: 10.1186/s12887-017-0784-1 ;PMID: 28086762Full text available |
| 11 |
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Familial Aggregation and Heritability of Congenital Heart DefectsCirculation Journal, 2017/12/25, Vol.82(1), pp.232-238 [Peer Reviewed Journal]2018 THE JAPANESE CIRCULATION SOCIETY ;ISSN: 1346-9843 ;EISSN: 1347-4820 ;DOI: 10.1253/circj.CJ-17-0250 ;PMID: 28824028Full text available |
| 12 |
Material Type: Article
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Parental smoking during pregnancy and cardiovascular structures and function in childhood: The Generation R StudyInternational journal of epidemiology, 2013-10, Vol.42 (5), p.1371-1380 [Peer Reviewed Journal]2014 INIST-CNRS ;ISSN: 0300-5771 ;EISSN: 1464-3685 ;DOI: 10.1093/ije/dyt178 ;PMID: 24159077 ;CODEN: IJEPBFFull text available |
| 13 |
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Frequency of Development of Aortic Valve Disease in Unrepaired Perimembranous Ventricular Septal DefectsThe American journal of cardiology, 2017-05, Vol.119 (10), p.1670-1674 [Peer Reviewed Journal]Elsevier Inc. ;2017 Elsevier Inc. ;Copyright © 2017 Elsevier Inc. All rights reserved. ;Copyright Elsevier Sequoia S.A. May 15, 2017 ;ISSN: 0002-9149 ;EISSN: 1879-1913 ;DOI: 10.1016/j.amjcard.2017.02.004 ;PMID: 28325571Full text available |
| 14 |
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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 |
| 15 |
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Increased Levels of Interferon‐Inducible Protein 10 (IP‐10) in 22q11.2 Deletion SyndromeScandinavian journal of immunology, 2016-03, Vol.83 (3), p.188-194 [Peer Reviewed Journal]2015 The Foundation for the Scandinavian Journal of Immunology ;2015 The Foundation for the Scandinavian Journal of Immunology. ;Copyright © 2016 The Foundation for the Scandinavian Journal of Immunology ;ISSN: 0300-9475 ;EISSN: 1365-3083 ;DOI: 10.1111/sji.12406 ;PMID: 26708691Digital Resources/Online E-Resources |
| 16 |
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Spatial patterns of the congenital heart disease prevalence among 0- to 14-year-old children in Sichuan Basin, P. R China, from 2004 to 2009BMC public health, 2014-06, Vol.14 (1), p.595-595, Article 595 [Peer Reviewed Journal]COPYRIGHT 2014 BioMed Central Ltd. ;2014 Ma 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 credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. ;Copyright © 2014 Ma et al.; licensee BioMed Central Ltd. 2014 Ma et al.; licensee BioMed Central Ltd. ;ISSN: 1471-2458 ;EISSN: 1471-2458 ;DOI: 10.1186/1471-2458-14-595 ;PMID: 24924350Full text available |
| 17 |
Material Type: Article
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Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13CAmerican journal of medical genetics. Part A, 2011-04, Vol.155A (4), p.706-716 [Peer Reviewed Journal]Copyright © 2011 Wiley‐Liss, Inc. ;Copyright © 2011 Wiley-Liss, Inc. ;2011 Wiley-Liss, Inc. 2011 ;ISSN: 1552-4825 ;ISSN: 1552-4833 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.33884 ;PMID: 21438134Full text available |
| 18 |
Material Type: Article
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Cutaneous Manifestations in Costello and Cardiofaciocutaneous Syndrome: Report of 18 Cases and Literature ReviewPediatric dermatology, 2013-11, Vol.30 (6), p.665-673 [Peer Reviewed Journal]2013 Wiley Periodicals, Inc. ;ISSN: 0736-8046 ;EISSN: 1525-1470 ;DOI: 10.1111/pde.12171 ;PMID: 24283439Full text available |
| 19 |
Material Type: Article
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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 |
| 20 |
Material Type: Article
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Bayesian partial linear model for skewed longitudinal dataBiostatistics (Oxford, England), 2015-07, Vol.16 (3), p.441-453 [Peer Reviewed Journal]The Author 2015. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com. ;The Author 2015. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com. 2015 ;ISSN: 1465-4644 ;EISSN: 1468-4357 ;DOI: 10.1093/biostatistics/kxv005 ;PMID: 25792623Full text available |
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