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| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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Comprehensive genotype–phenotype analysis in 230 patients with tetralogy of FallotJournal of medical genetics, 2010-05, Vol.47 (5), p.321-331 [Peer Reviewed Journal]2010, 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. ;2015 INIST-CNRS ;Copyright: 2010 (c) 2010, 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: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.2009.070391 ;PMID: 19948535 ;CODEN: JMDGAEFull text available |
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Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathwaysPLoS genetics, 2012-08, Vol.8 (8), p.e1002843-e1002843 [Peer Reviewed Journal]COPYRIGHT 2012 Public Library of Science ;COPYRIGHT 2012 Public Library of Science ;Silversides et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited: Silversides CK, Lionel AC, Costain G, Merico D, Migita O, et al. (2012) Rare Copy Number Variations in Adults with Tetralogy of Fallot Implicate Novel Risk Gene Pathways. PLoS Genetics 8(8): e1002843. doi:10.1371/journal.pgen.1002843 ;2012 Silversides et al 2012 Silversides et al ;ISSN: 1553-7404 ;ISSN: 1553-7390 ;EISSN: 1553-7404 ;DOI: 10.1371/journal.pgen.1002843 ;PMID: 22912587Full text available |
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Serial Magnetic Resonance Imaging for Aortic Dilation in Tetralogy of Fallot With Pulmonary StenosisThe American journal of cardiology, 2023-03, Vol.191, p.92-100 [Peer Reviewed Journal]2022 Elsevier Inc. ;Copyright © 2022 Elsevier Inc. All rights reserved. ;2022. Elsevier Inc. ;ISSN: 0002-9149 ;EISSN: 1879-1913 ;DOI: 10.1016/j.amjcard.2022.12.015 ;PMID: 36669383Full text available |
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Foetal echocardiographic assessment of tetralogy of Fallot and post-natal outcomeEuropean heart journal, 2008-06, Vol.29 (11), p.1432-1438 [Peer Reviewed Journal]Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2008. For permissions please email: journals.permissions@oxfordjournals.org 2008 ;ISSN: 0195-668X ;EISSN: 1522-9645 ;DOI: 10.1093/eurheartj/ehn194 ;PMID: 18467321Full text available |
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Chromosomal abnormalities among children born with conotruncal cardiac defectsBirth defects research. A Clinical and molecular teratology, 2009-01, Vol.85 (1), p.30-35 [Peer Reviewed Journal]Copyright © 2008 Wiley‐Liss, Inc. ;ISSN: 1542-0752 ;EISSN: 1542-0760 ;DOI: 10.1002/bdra.20541 ;PMID: 19067405Full text available |
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Chromosomal aberrations and CNVs in twin fetuses with cardiovascular anomalies: Comparison between monochorionic diamniotic and dichorionic diamniotic twinsPrenatal diagnosis, 2018-04, Vol.38 (5), p.318 [Peer Reviewed Journal]2018 John Wiley & Sons, Ltd. ;EISSN: 1097-0223 ;DOI: 10.1002/pd.5238 ;PMID: 29460287Digital Resources/Online E-Resources |
| 7 |
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Exploring Shared Susceptibility between Two Neural Crest Cells Originating Conditions: Neuroblastoma and Congenital Heart DiseaseGenes, 2019-08, Vol.10 (9), p.663 [Peer Reviewed Journal]2019 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 (http://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. ;2019 by the authors. 2019 ;ISSN: 2073-4425 ;EISSN: 2073-4425 ;DOI: 10.3390/genes10090663 ;PMID: 31480262Full text available |
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Identification of novel candidate gene loci and increased sex chromosome aneuploidy among infants with conotruncal heart defectsAmerican journal of medical genetics. Part A, 2014-02, Vol.164A (2), p.397-406 [Peer Reviewed Journal]2013 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.36291 ;PMID: 24127225Full text available |
| 9 |
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Extracardiac features predicting 22q11.2 deletion syndrome in adult congenital heart diseaseInternational journal of cardiology, 2008-12, Vol.131 (1), p.51 [Peer Reviewed Journal]EISSN: 1874-1754 ;DOI: 10.1016/j.ijcard.2007.08.141 ;PMID: 18191243Digital Resources/Online E-Resources |
| 10 |
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Sirenomelia: a review on embryogenic enviromental theories, novel three-dimensional ultrasound imaging and first trimester diagnosis in a case of mosaic 69,XXX/46,XX fetusArchives of gynecology and obstetrics, 2013-07, Vol.288 (1), p.3-11 [Peer Reviewed Journal]Springer-Verlag Berlin Heidelberg 2013 ;Archives of Gynecology and Obstetrics is a copyright of Springer, (2013). All Rights Reserved. ;ISSN: 0932-0067 ;EISSN: 1432-0711 ;DOI: 10.1007/s00404-013-2847-3 ;PMID: 23625330Full text available |
| 11 |
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Porcine Intestinal Submucosa (CorMatrix) for Semilunar Valve Repair in Children: A Word of Caution After Midterm ResultsSeminars in thoracic and cardiovascular surgery, 2016, Vol.28 (2), p.436 [Peer Reviewed Journal]Copyright © 2016 Elsevier Inc. All rights reserved. ;EISSN: 1532-9488 ;DOI: 10.1053/j.semtcvs.2016.04.015 ;PMID: 28043457Digital Resources/Online E-Resources |
| 12 |
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Rapid aneuploidy diagnosis by multiplex ligation-dependent probe amplification and array comparative genomic hybridization in pregnancy with major congenital malformationsTaiwanese journal of obstetrics & gynecology, 2011-03, Vol.50 (1), p.85-94 [Peer Reviewed Journal]2011 ;Copyright © 2011. Published by Elsevier B.V. ;ISSN: 1028-4559 ;EISSN: 1875-6263 ;DOI: 10.1016/j.tjog.2010.05.001 ;PMID: 21482381Full text available |
| 13 |
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Recombination aneusomy of chromosome 5 associated with multiple severe congenital malformationsClinical genetics, 1986-10, Vol.30 (4), p.285-292 [Peer Reviewed Journal]1987 INIST-CNRS ;ISSN: 0009-9163 ;EISSN: 1399-0004 ;DOI: 10.1111/j.1399-0004.1986.tb00608.x ;PMID: 3791677 ;CODEN: CLGNAYFull text available |
| 14 |
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Non-invasive prenatal screening versus prenatal diagnosis by array comparative genomic hybridization: a comparative retrospective studyPrenatal diagnosis, 2017-06, Vol.37 (6), p.583 [Peer Reviewed Journal]2017 John Wiley & Sons, Ltd. ;EISSN: 1097-0223 ;DOI: 10.1002/pd.5051 ;PMID: 28406537Digital Resources/Online E-Resources |
| 15 |
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Array comparative genomic hybridisation testing in CHDCardiology in the young, 2015-08, Vol.25 (6), p.1155-1172 [Peer Reviewed Journal]Cambridge University Press 2014 ;ISSN: 1047-9511 ;EISSN: 1467-1107 ;DOI: 10.1017/S1047951114001838 ;PMID: 25296170Full text available |
| 16 |
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Congenital heart defects associated with aneuploidy syndromes: New insights into familiar associationsAmerican journal of medical genetics. Part C, Seminars in medical genetics, 2020-03, Vol.184 (1), p.532019 Wiley Periodicals, Inc. ;EISSN: 1552-4876 ;DOI: 10.1002/ajmg.c.31760 ;PMID: 31868316Digital Resources/Online E-Resources |
| 17 |
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Transcatheter pulmonary valve replacement: evolving indications and applicationFuture cardiology, 2018-11, Vol.14 (6), p.511-524 [Peer Reviewed Journal]2018 Future Medicine Ltd ;Copyright Future Medicine Ltd Nov 2018 ;ISSN: 1479-6678 ;EISSN: 1744-8298 ;DOI: 10.2217/fca-2018-0065Full text available |
| 18 |
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All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experiencePrenatal diagnosis, 2023-04, Vol.43 (4), p.527 [Peer Reviewed Journal]2023 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd. ;EISSN: 1097-0223 ;DOI: 10.1002/pd.6314 ;PMID: 36647814Digital Resources/Online E-Resources |
| 19 |
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Clinical utility of array comparative genomic hybridisation for prenatal diagnosis: a cohort study of 3171 pregnanciesBJOG : an international journal of obstetrics and gynaecology, 2012-04, Vol.119 (5), p.614-625 [Peer Reviewed Journal]2012 The Authors BJOG An International Journal of Obstetrics and Gynaecology © 2012 RCOG ;2015 INIST-CNRS ;2012 The Authors BJOG An International Journal of Obstetrics and Gynaecology © 2012 RCOG. ;ISSN: 1470-0328 ;EISSN: 1471-0528 ;DOI: 10.1111/j.1471-0528.2012.03279.x ;PMID: 22313859 ;CODEN: BIOGFQFull text available |
| 20 |
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Prevalence of chromosomal disorders in cases with congenital heart defect: registry-based study from Denmark between 2008 and 2018Ultrasound in obstetrics & gynecology, 2023-01, Vol.61 (1), p.40 [Peer Reviewed Journal]2022 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology. ;EISSN: 1469-0705 ;DOI: 10.1002/uog.26075 ;PMID: 36099538Digital Resources/Online E-Resources |
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