Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Article
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Cardiovascular Phenotype in Turner Syndrome—Integrating Cardiology, Genetics, and EndocrinologyEndocrine reviews, 2012-10, Vol.33 (5), p.677-714 [Peer Reviewed Journal]Copyright © 2012 by The Endocrine Society ;2015 INIST-CNRS ;ISSN: 0163-769X ;EISSN: 1945-7189 ;DOI: 10.1210/er.2011-1059 ;PMID: 22707402 ;CODEN: ERVIDPFull text available |
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2 |
Material Type: Article
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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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3 |
Material Type: Article
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Paroxetine exposure during pregnancy and cardiac malformationsBirth defects research. A Clinical and molecular teratology, 2010-03, Vol.88 (3), p.175-177 [Peer Reviewed Journal]Copyright © 2010 Wiley‐Liss, Inc. ;ISSN: 1542-0752 ;EISSN: 1542-0760 ;DOI: 10.1002/bdra.20655 ;PMID: 20175190Full text available |
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Material Type: Article
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Paroxetine exposure during pregnancy and the risk of cardiac malformations: What is the evidence?Birth defects research. A Clinical and molecular teratology, 2010-03, Vol.88 (3), p.171-174 [Peer Reviewed Journal]Copyright © 2009 Wiley‐Liss, Inc. ;ISSN: 1542-0752 ;EISSN: 1542-0760 ;DOI: 10.1002/bdra.20643 ;PMID: 19950383Full text available |
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5 |
Material Type: Article
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Rare case of massive congenital bilateral chylothorax in a hydropic fetus with true mosaicism 47,XXX/46,XXThe journal of obstetrics and gynaecology research, 2014-01, Vol.40 (1), p.259-262 [Peer Reviewed Journal]2013 The Authors. Journal of Obstetrics and Gynaecology Research © 2013 Japan Society of Obstetrics and Gynecology ;2013 The Authors. Journal of Obstetrics and Gynaecology Research © 2013 Japan Society of Obstetrics and Gynecology. ;ISSN: 1341-8076 ;EISSN: 1447-0756 ;DOI: 10.1111/jog.12131 ;PMID: 23937348Full text available |
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6 |
Material Type: Article
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Chromosomal abnormalities and congenital heart diseaseCirculation (New York, N.Y.), 1967-12, Vol.36 (6), p.886-905 [Peer Reviewed Journal]ISSN: 0009-7322 ;EISSN: 1524-4539 ;DOI: 10.1161/01.CIR.36.6.886 ;PMID: 4228819Full text available |
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Material Type: Article
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A review of trisomy X (47,XXX)Orphanet journal of rare diseases, 2010-05, Vol.5 (1), p.8-8, Article 8 [Peer Reviewed Journal]COPYRIGHT 2010 BioMed Central Ltd. ;COPYRIGHT 2010 BioMed Central Ltd. ;Copyright ©2010 Tartaglia et al; licensee BioMed Central Ltd. 2010 Tartaglia et al; licensee BioMed Central Ltd. ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/1750-1172-5-8 ;PMID: 20459843Full text available |
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8 |
Material Type: Article
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Etiology and clinical presentation of birth defects: population based studyBMJ (Online), 2017-05, Vol.357, p.j2249 [Peer Reviewed Journal]Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to ;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: 2017 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 2017 BMJ ;ISSN: 0959-8138 ;EISSN: 1756-1833 ;DOI: 10.1136/bmj.j2249 ;PMID: 28559234Full text available |
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9 |
Material Type: Article
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Craniofacial and dental manifestations of triple X syndrome associated with congenital hypothyroidism: a case reportSpecial care in dentistry, 2014-05, Vol.34 (3), p.156-159 [Peer Reviewed Journal]2013 Special Care Dentistry Association and Wiley Periodicals, Inc. ;ISSN: 0275-1879 ;EISSN: 1754-4505 ;DOI: 10.1111/scd.12050 ;PMID: 24117978Full text available |
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10 |
Material Type: Article
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47, XXX syndrome with infertility, premature ovarian insufficiency, and streak ovariesClinical case reports, 2019-06, Vol.7 (6), p.1238-1241 [Peer Reviewed Journal]2019 The Authors. published by John Wiley & Sons Ltd. ;2019. 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: 2050-0904 ;EISSN: 2050-0904 ;DOI: 10.1002/ccr3.2207 ;PMID: 31183102Full text available |
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11 |
Material Type: Article
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Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart DiseaseGenes, 2022-06, Vol.13 (7), p.1172 [Peer Reviewed Journal]COPYRIGHT 2022 MDPI AG ;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: 2073-4425 ;EISSN: 2073-4425 ;DOI: 10.3390/genes13071172 ;PMID: 35885957Full text available |
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12 |
Material Type: Article
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Diploid/triploid mosaicism: a variable but characteristic phenotypeRevista de neurologiá, 2014-08, Vol.59 (4), p.158-163 [Peer Reviewed Journal]EISSN: 1576-6578 ;DOI: 10.33588/rn.5904.2014077 ;PMID: 25059266Full text available |
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13 |
Material Type: Article
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Structural and numerical changes of chromosome X in patients with esophageal atresiaEuropean journal of human genetics : EJHG, 2014-09, Vol.22 (9), p.1077-1084 [Peer Reviewed Journal]Copyright Nature Publishing Group Sep 2014 ;Copyright © 2014 Macmillan Publishers Limited 2014 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2013.295 ;PMID: 24398799Full text available |
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14 |
Material Type: Article
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Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosisAmerican journal of medical genetics. Part A, 2016-11, Vol.170A (11), p.2870-2881 [Peer Reviewed Journal]2016 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.37688 ;PMID: 27644018Full text available |
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15 |
Material Type: Article
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Congenital diaphragmatic hernias: from genes to mechanisms to therapiesDisease models & mechanisms, 2017-08, Vol.10 (8), p.955-970 [Peer Reviewed Journal]2017. Published by The Company of Biologists Ltd. ;2017. This work is licensed under http://creativecommons.org/licenses/by/3.0 (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2017. Published by The Company of Biologists Ltd 2017 ;ISSN: 1754-8403 ;EISSN: 1754-8411 ;DOI: 10.1242/dmm.028365 ;PMID: 28768736Full text available |
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16 |
Material Type: Article
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Anetoderma in a patient with terminal osseous dysplasia with pigmentary defectsAmerican journal of medical genetics. Part A, 2015-10, Vol.167A (10), p.2459-2462 [Peer Reviewed Journal]2015 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.37176 ;PMID: 26059211Full text available |
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17 |
Material Type: Article
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Management of Congenital Diaphragmatic Hernia (CDH): Role of Molecular GeneticsInternational journal of molecular sciences, 2021-06, Vol.22 (12), p.6353 [Peer Reviewed Journal]2021 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. ;2021 by the authors. 2021 ;ISSN: 1422-0067 ;ISSN: 1661-6596 ;EISSN: 1422-0067 ;DOI: 10.3390/ijms22126353 ;PMID: 34198563Full text available |
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18 |
Material Type: Article
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Rare combination of congenital heart disease and pulmonary alveolar proteinosisPediatrics international, 2015-10, Vol.57 (5), p.999-1001 [Peer Reviewed Journal]2015 Japan Pediatric Society ;2015 Japan Pediatric Society. ;ISSN: 1328-8067 ;EISSN: 1442-200X ;DOI: 10.1111/ped.12695 ;PMID: 26310609Full text available |
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19 |
Material Type: Article
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The Contribution of Chromosomal Abnormalities to Congenital Heart Defects: A Population-Based StudyPediatric cardiology, 2011-12, Vol.32 (8), p.1147-1157 [Peer Reviewed Journal]Springer Science+Business Media, LLC (outside the USA) 2011 ;COPYRIGHT 2011 Springer ;ISSN: 0172-0643 ;EISSN: 1432-1971 ;DOI: 10.1007/s00246-011-0034-5 ;PMID: 21728077Full text available |
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20 |
Material Type: Article
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Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han populationBMC medical genomics, 2016-01, Vol.9 (2), p.2-2, Article 2 [Peer Reviewed Journal]COPYRIGHT 2016 BioMed Central Ltd. ;COPYRIGHT 2016 BioMed Central Ltd. ;An et al. 2016 ;ISSN: 1755-8794 ;EISSN: 1755-8794 ;DOI: 10.1186/s12920-015-0163-4 ;PMID: 26742958Full text available |