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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Genetics and Genomics of Congenital Heart DiseaseCirculation research, 2017-03, Vol.120 (6), p.923-940 [Peer Reviewed Journal]2017 American Heart Association, Inc. ;Copyright Lippincott Williams & Wilkins Ovid Technologies Mar 17, 2017 ;ISSN: 0009-7330 ;EISSN: 1524-4571 ;DOI: 10.1161/circresaha.116.309140 ;PMID: 28302740Full text available |
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2 |
Material Type: Article
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Molecular Pathophysiology of Congenital Long QT SyndromePhysiological reviews, 2017-01, Vol.97 (1), p.89-134 [Peer Reviewed Journal]Copyright © 2017 the American Physiological Society. ;Copyright American Physiological Society Jan 2017 ;Copyright © 2017 the American Physiological Society 2017 American Physiological Society ;ISSN: 0031-9333 ;EISSN: 1522-1210 ;DOI: 10.1152/physrev.00008.2016 ;PMID: 27807201 ;CODEN: PHREA7Full text available |
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3 |
Material Type: Article
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DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectivesEuropean journal of endocrinology, 2018-12, Vol.179 (6), p.R297-R317 [Peer Reviewed Journal]2018 European Society of Endocrinology ;ISSN: 0804-4643 ;EISSN: 1479-683X ;DOI: 10.1530/EJE-18-0383 ;PMID: 30324792Full text available |
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4 |
Material Type: Article
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Changing Landscape of Congenital Heart DiseaseCirculation research, 2017-03, Vol.120 (6), p.908-922 [Peer Reviewed Journal]2017 American Heart Association, Inc. ;Copyright Lippincott Williams & Wilkins Ovid Technologies Mar 17, 2017 ;ISSN: 0009-7330 ;EISSN: 1524-4571 ;DOI: 10.1161/circresaha.116.309302 ;PMID: 28302739Full text available |
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5 |
Material Type: Article
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Hearing loss and congenital CMV infection: a systematic reviewPediatrics (Evanston), 2014-11, Vol.134 (5), p.972-982 [Peer Reviewed Journal]Copyright © 2014 by the American Academy of Pediatrics. ;Copyright American Academy of Pediatrics Nov 2014 ;ISSN: 0031-4005 ;EISSN: 1098-4275 ;DOI: 10.1542/peds.2014-1173 ;PMID: 25349318 ;CODEN: PEDIAUFull text available |
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6 |
Material Type: Article
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Quantification of inbreeding due to distant ancestors and its detection using dense single nucleotide polymorphism dataGenetics (Austin), 2011-09, Vol.189 (1), p.237-249 [Peer Reviewed Journal]Copyright Genetics Society of America Sep 2011 ;Copyright © 2011 by the Genetics Society of America 2011 ;ISSN: 1943-2631 ;ISSN: 0016-6731 ;EISSN: 1943-2631 ;DOI: 10.1534/genetics.111.130922 ;PMID: 21705750 ;CODEN: GENTAEFull text available |
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7 |
Material Type: Article
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Variation in Prenatal Diagnosis of Congenital Heart Disease in InfantsPediatrics (Evanston), 2015-08, Vol.136 (2), p.e378-e385 [Peer Reviewed Journal]Copyright © 2015 by the American Academy of Pediatrics. ;Copyright American Academy of Pediatrics Aug 2015 ;ISSN: 0031-4005 ;EISSN: 1098-4275 ;DOI: 10.1542/peds.2014-3783 ;PMID: 26216324 ;CODEN: PEDIAUFull text available |
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8 |
Material Type: Article
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Meiotic spindle assembly and chromosome segregation in oocytesThe Journal of cell biology, 2016-12, Vol.215 (5), p.611-619 [Peer Reviewed Journal]2016 Bennabi et al. ;Distributed under a Creative Commons Attribution 4.0 International License ;2016 Bennabi et al. 2016 ;ISSN: 0021-9525 ;EISSN: 1540-8140 ;DOI: 10.1083/jcb.201607062 ;PMID: 27879467 ;CODEN: JCLBA3Full text available |
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9 |
Material Type: Article
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Prenatal diagnosis and prevalence of critical congenital heart defects: an international retrospective cohort studyBMJ open, 2019-07, Vol.9 (7), p.e028139-e028139 [Peer Reviewed Journal]Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY. Published by BMJ. ;2019 Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY. Published by BMJ. This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: 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. ;Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY. Published by BMJ. 2019 ;ISSN: 2044-6055 ;EISSN: 2044-6055 ;DOI: 10.1136/bmjopen-2018-028139 ;PMID: 31270117Full text available |
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10 |
Material Type: Article
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Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic CriteriaJNCI : Journal of the National Cancer Institute, 2013-11, Vol.105 (21), p.1607-1616 [Peer Reviewed Journal]2015 INIST-CNRS ;Copyright Oxford Publishing Limited(England) Nov 6, 2013 ;ISSN: 0027-8874 ;EISSN: 1460-2105 ;DOI: 10.1093/jnci/djt277 ;PMID: 24136893 ;CODEN: JNCIEQFull text available |
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11 |
Material Type: Article
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Role of Epigenetics in Cardiac Development and Congenital DiseasesPhysiological reviews, 2018-10, Vol.98 (4), p.2453-2475 [Peer Reviewed Journal]Copyright American Physiological Society Oct 2018 ;ISSN: 0031-9333 ;EISSN: 1522-1210 ;DOI: 10.1152/physrev.00048.2017 ;PMID: 30156497Full text available |
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12 |
Material Type: Article
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A Targeted Approach for Congenital Cytomegalovirus Screening Within Newborn Hearing ScreeningPediatrics (Evanston), 2017-02, Vol.139 (2), p.1-1 [Peer Reviewed Journal]Copyright © 2017 by the American Academy of Pediatrics. ;Copyright American Academy of Pediatrics Feb 2017 ;Copyright © 2017 by the American Academy of Pediatrics 2017 ;ISSN: 0031-4005 ;EISSN: 1098-4275 ;DOI: 10.1542/peds.2016-2128 ;PMID: 28049114 ;CODEN: PEDIAUFull text available |
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13 |
Material Type: Article
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Understanding the gut–kidney axis in nephrolithiasis: an analysis of the gut microbiota composition and functionality of stone formersGut, 2018-12, Vol.67 (12), p.2097-2106 [Peer Reviewed Journal]Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted. ;2018 Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted. ;ISSN: 0017-5749 ;EISSN: 1468-3288 ;DOI: 10.1136/gutjnl-2017-315734 ;PMID: 29705728Full text available |
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14 |
Material Type: Article
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16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlationsJournal of medical genetics, 2020-05, Vol.57 (5), p.301-307 [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. ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2018-105389 ;PMID: 30287593Full text available |
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15 |
Material Type: Article
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Inherited cataracts: molecular genetics, clinical features, disease mechanisms and novel therapeutic approachesBritish journal of ophthalmology, 2020-10, Vol.104 (10), p.1331-1337 [Peer Reviewed Journal]Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY. Published by BMJ. ;2020 Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY. Published by BMJ. This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: 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. ;ISSN: 0007-1161 ;EISSN: 1468-2079 ;DOI: 10.1136/bjophthalmol-2019-315282 ;PMID: 32217542Full text available |
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16 |
Material Type: Article
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Update and audit of the St George’s classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosisJournal of medical genetics, 2020-10, Vol.57 (10), p.653-659 [Peer Reviewed Journal]Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY. Published by BMJ. ;2020 Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY. Published by BMJ. This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: 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. ;Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY. Published by BMJ. 2020 ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2019-106084 ;PMID: 32409509Full text available |
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17 |
Material Type: Article
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The developmental biology of genetic Notch disordersDevelopment (Cambridge), 2017-05, Vol.144 (10), p.1743-1763 [Peer Reviewed Journal]2017. Published by The Company of Biologists Ltd. ;Copyright The Company of Biologists Ltd May 15, 2017 ;ISSN: 0950-1991 ;ISSN: 1477-9129 ;EISSN: 1477-9129 ;DOI: 10.1242/dev.148007 ;PMID: 28512196Full text available |
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18 |
Material Type: Article
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Zika, chikungunya and dengue: the causes and threats of new and re-emerging arboviral diseasesBMJ global health, 2018-01, Vol.3 (Suppl 1), p.e000530-e000530 [Peer Reviewed Journal]World Health Organization [2017]. Licensee BMJ. ;2017 World Health Organization [2017]. Licensee BMJ. This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial IGO License (CC BY-NC 3.0 IGO), which permits use, distribution,and reproduction for non-commercial purposes in any medium, provided the original work is properly cited. In any reproduction of this article there should not be any suggestion that WHO or this article endorse any specific organization or products. The use of the WHO logo is not permitted. This notice should be preserved along with the article’s original URL. See: https://creativecommons.org/licenses/by-nc/3.0/igo Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;World Health Organization [2017]. Licensee BMJ. 2017 ;ISSN: 2059-7908 ;EISSN: 2059-7908 ;DOI: 10.1136/bmjgh-2017-000530 ;PMID: 29435366Full text available |
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19 |
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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20 |
Material Type: Article
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Genome-wide association analysis of diverticular disease points towards neuromuscular, connective tissue and epithelial pathomechanismsGut, 2019-05, Vol.68 (5), p.854-865 [Peer Reviewed Journal]Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ. ;2019 Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 0017-5749 ;ISSN: 1468-3288 ;EISSN: 1468-3288 ;DOI: 10.1136/gutjnl-2018-317619 ;PMID: 30661054Full text available |