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1 |
Material Type: Article
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Epidemiology of congenital diaphragmatic hernia in Europe: a register-based studyArchives of disease in childhood. Fetal and neonatal edition, 2015-03, Vol.100 (2), p.F137-F144 [Peer Reviewed Journal]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 ;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. ;Copyright: 2015 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: 1359-2998 ;EISSN: 1468-2052 ;DOI: 10.1136/archdischild-2014-306174 ;PMID: 25411443Full text available |
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2 |
Material Type: Article
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Trends in Congenital Heart Defects in Infants With Down SyndromePediatrics (Evanston), 2016-07, Vol.138 (1), p.1-1 [Peer Reviewed Journal]Copyright © 2016 by the American Academy of Pediatrics. ;Copyright American Academy of Pediatrics Jul 2016 ;ISSN: 0031-4005 ;ISSN: 1098-4275 ;EISSN: 1098-4275 ;DOI: 10.1542/peds.2016-0123 ;PMID: 27252035 ;CODEN: PEDIAUFull text available |
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Material Type: Article
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Biliary atresiaThe Lancet (British edition), 2009-11, Vol.374 (9702), p.1704-1713 [Peer Reviewed Journal]Elsevier Ltd ;2009 Elsevier Ltd ;2009 INIST-CNRS ;Copyright Elsevier Limited Nov 14-Nov 20, 2009 ;ISSN: 0140-6736 ;EISSN: 1474-547X ;DOI: 10.1016/S0140-6736(09)60946-6 ;PMID: 19914515 ;CODEN: LANCAOFull text available |
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4 |
Material Type: Article
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The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathyEuropean journal of human genetics : EJHG, 2013-03, Vol.21 (3), p.266-273 [Peer Reviewed Journal]Copyright Nature Publishing Group Mar 2013 ;Copyright © 2013 Macmillan Publishers Limited 2013 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2012.156 ;PMID: 22872100Full text available |
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5 |
Material Type: Article
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Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer RiskClinical cancer research, 2017-06, Vol.23 (12), p.e83-e90 [Peer Reviewed Journal]2017 American Association for Cancer Research. ;Copyright American Association for Cancer Research Inc Jun 15, 2017 ;ISSN: 1078-0432 ;EISSN: 1557-3265 ;DOI: 10.1158/1078-0432.CCR-17-0631 ;PMID: 28620009Full text available |
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6 |
Material Type: Article
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Evidence that duplications of 22q11.2 protect against schizophreniaMolecular psychiatry, 2014-01, Vol.19 (1), p.37-40 [Peer Reviewed Journal]COPYRIGHT 2014 Nature Publishing Group ;Copyright Nature Publishing Group Jan 2014 ;Copyright © 2014 Macmillan Publishers Limited 2014 Macmillan Publishers Limited ;ISSN: 1359-4184 ;ISSN: 1476-5578 ;EISSN: 1476-5578 ;DOI: 10.1038/mp.2013.156 ;PMID: 24217254Full text available |
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7 |
Material Type: Article
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Oesophageal atresia: prevalence, prenatal diagnosis and associated anomalies in 23 European regionsArchives of disease in childhood, 2012-03, Vol.97 (3), p.227-232 [Peer Reviewed Journal]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: 2012 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: 0003-9888 ;EISSN: 1468-2044 ;DOI: 10.1136/archdischild-2011-300597 ;PMID: 22247246 ;CODEN: ADCHAKFull text available |
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8 |
Material Type: Article
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Increasing Prevalence and High Risk of Associated Anomalies in Congenital Vertebral Defects: A Population-based StudyJournal of pediatric orthopaedics, 2022-05, Vol.42 (5), p.E538 [Peer Reviewed Journal]ISSN: 1539-2570 ;EISSN: 1539-2570 ;DOI: 10.1097/BPO.0000000000002124Digital Resources/Online E-Resources |
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9 |
Material Type: Article
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Early Developmental Outcome in Children With Hypoplastic Left Heart Syndrome and Related Anomalies The Single Ventricle Reconstruction TrialCirculation (New York, N.Y.), 2012-05, Vol.125 (17), p.2081-2091 [Peer Reviewed Journal]2015 INIST-CNRS ;ISSN: 0009-7322 ;EISSN: 1524-4539 ;DOI: 10.1161/CIRCULATIONAHA.111.064113 ;PMID: 22456475 ;CODEN: CIRCAZFull text available |
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10 |
Material Type: Article
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Cancer risk in individuals with major birth defects: large Nordic population based case-control study among children, adolescents, and adultsBMJ (Online), 2020-12, Vol.371, p.m4060-m4060 [Peer Reviewed Journal]Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. ;Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. ;2020 Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. BMJ This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/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)) 2019. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. 2020 BMJ ;ISSN: 1756-1833 ;ISSN: 0959-8138 ;EISSN: 1756-1833 ;DOI: 10.1136/bmj.m4060 ;PMID: 33268348Full text available |
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11 |
Material Type: Article
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The MECP2 duplication syndromeAmerican journal of medical genetics. Part A, 2010-05, Vol.152A (5), p.1079-1088 [Peer Reviewed Journal]Copyright © 2010 Wiley‐Liss, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.33184 ;PMID: 20425814Full text available |
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12 |
Material Type: Article
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VACTERL/VATER AssociationOrphanet journal of rare diseases, 2011-08, Vol.6 (1), p.56-56 [Peer Reviewed Journal]COPYRIGHT 2011 BioMed Central Ltd. ;COPYRIGHT 2011 BioMed Central Ltd. ;Copyright ©2011 Solomon; licensee BioMed Central Ltd. 2011 Solomon; licensee BioMed Central Ltd. ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/1750-1172-6-56 ;PMID: 21846383Full text available |
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13 |
Material Type: Article
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Esophageal atresia: data from a national cohortJournal of pediatric surgery, 2013-08, Vol.48, p.1664-9 [Peer Reviewed Journal]Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 1531-5037 ;EISSN: 1531-5037 ;DOI: 10.1016/j.jpedsurg.2013.03.075Digital Resources/Online E-Resources |
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14 |
Material Type: Article
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Major Depression and Antidepressant Treatment: Impact on Pregnancy and Neonatal OutcomesThe American journal of psychiatry, 2009-05, Vol.166 (5), p.557-566 [Peer Reviewed Journal]2009 INIST-CNRS ;Copyright American Psychiatric Association May 2009 ;ISSN: 0002-953X ;EISSN: 1535-7228 ;DOI: 10.1176/appi.ajp.2008.08081170 ;PMID: 19289451 ;CODEN: AJPSAOFull text available |
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15 |
Material Type: Article
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The effects of imatinib on pregnancy outcomeBlood, 2008-06, Vol.111 (12), p.5505-5508 [Peer Reviewed Journal]2008 American Society of Hematology ;2008 INIST-CNRS ;2008 by The American Society of Hematology 2008 ;ISSN: 0006-4971 ;EISSN: 1528-0020 ;DOI: 10.1182/blood-2007-10-114900 ;PMID: 18322153Full text available |
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16 |
Material Type: Article
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Shorter anogenital distance correlates with undescended testis: a detailed genital anthropometric analysis in human newbornsHuman reproduction (Oxford), 2013-09, Vol.28 (9), p.2343-2349 [Peer Reviewed Journal]The Author 2013. 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 2013 ;ISSN: 0268-1161 ;EISSN: 1460-2350 ;DOI: 10.1093/humrep/det286 ;PMID: 23838161Full text available |
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17 |
Material Type: Article
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Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in EuropeEuropean journal of human genetics : EJHG, 2014-08, Vol.22 (8), p.1026-1033 [Peer Reviewed Journal]Copyright Nature Publishing Group Aug 2014 ;Copyright © 2014 Macmillan Publishers Limited 2014 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2013.287 ;PMID: 24398798Full text available |
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18 |
Material Type: Article
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Endometriosis in association with Herlyn-Werner-Wunderlich syndromeFertility and sterility, 2014-09, Vol.102 (3), p.790-794 [Peer Reviewed Journal]2014 ;Copyright © 2014. Published by Elsevier Inc. ;ISSN: 0015-0282 ;EISSN: 1556-5653 ;DOI: 10.1016/j.fertnstert.2014.05.025 ;PMID: 25044087Full text available |
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19 |
Material Type: Article
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Moderate Aortic Enlargement and Bicuspid Aortic Valve Are Associated With Aortic Dissection in Turner Syndrome: Report of the International Turner Syndrome Aortic Dissection RegistryCirculation (New York, N.Y.), 2012-10, Vol.126 (18), p.2220-2226 [Peer Reviewed Journal]2015 INIST-CNRS ;ISSN: 0009-7322 ;EISSN: 1524-4539 ;DOI: 10.1161/CIRCULATIONAHA.111.088633 ;PMID: 23032325 ;CODEN: CIRCAZFull text available |
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20 |
Material Type: Article
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Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literatureEuropean journal of pediatrics, 2022-01, Vol.181 (1), p.171-187 [Peer Reviewed Journal]The Author(s) 2021 ;2021. The Author(s). ;The Author(s) 2021. 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. ;ISSN: 0340-6199 ;EISSN: 1432-1076 ;DOI: 10.1007/s00431-021-04108-w ;PMID: 34232366Full text available |