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Material Type: Article
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Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital AnomaliesAmerican journal of human genetics, 2010-05, Vol.86 (5), p.749-764 [Peer Reviewed Journal]2010 The American Society of Human Genetics ;2015 INIST-CNRS ;Copyright (c) 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright University of Chicago, acting through its Press May 14, 2010 ;2010 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2010 The American Society of Human Genetics ;ISSN: 0002-9297 ;ISSN: 1537-6605 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2010.04.006 ;PMID: 20466091 ;CODEN: AJHGAGFull text available |
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Material Type: Article
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Pulmonary Hypertension: A Brief Guide for CliniciansMayo Clinic proceedings, 2020-09, Vol.95 (9), p.1978-1988 [Peer Reviewed Journal]2020 Mayo Foundation for Medical Education and Research ;Copyright © 2020 Mayo Foundation for Medical Education and Research. Published by Elsevier Inc. All rights reserved. ;COPYRIGHT 2020 Elsevier, Inc. ;Copyright Mayo Foundation for Medical Education and Research Sep 2020 ;ISSN: 0025-6196 ;EISSN: 1942-5546 ;DOI: 10.1016/j.mayocp.2020.04.039 ;PMID: 32861339Full text available |
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Material Type: Article
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Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophyScientific reports, 2019-02, Vol.9 (1), p.1219-1219, Article 1219 [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) 2019 ;ISSN: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-018-38007-2 ;PMID: 30718709Full text available |
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Material Type: Article
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2018 ACC/AHA/HRS Guideline on the Evaluation and Management of Patients With Bradycardia and Cardiac Conduction Delay: Executive Summary: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines, and the Heart Rhythm SocietyJournal of the American College of Cardiology, 2019-08, Vol.74 (7), p.932-987 [Peer Reviewed Journal]2019. American College of Cardiology Foundation, the American Heart Association, Inc., and the Heart Rhythm Society ;ISSN: 0735-1097 ;EISSN: 1558-3597 ;DOI: 10.1016/j.jacc.2018.10.043 ;PMID: 30412710Full text available |
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Material Type: Article
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Epidemiology of adolescent idiopathic scoliosisJournal of children's orthopaedics, 2013-02, Vol.7 (1), p.3-9 [Peer Reviewed Journal]2013 European Pediatric Orthopaedic Society (EPOS), unless otherwise noted. Manuscript content on this site is licensed under Creative Commons Licenses. ;EPOS 2012 ;2013. This work is published under https://creativecommons.org/licenses/by-nc/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 1863-2521 ;EISSN: 1863-2548 ;DOI: 10.1007/s11832-012-0457-4 ;PMID: 24432052Digital Resources/Online E-Resources |
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Material Type: Article
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Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trialNature medicine, 2022-05, Vol.28 (5), p.1014-1021 [Peer Reviewed Journal]2022. The Author(s). ;The Author(s) 2022. 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) 2022 ;ISSN: 1078-8956 ;EISSN: 1546-170X ;DOI: 10.1038/s41591-022-01755-w ;PMID: 35379979Full text available |
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Material Type: Article
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Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humansPLoS genetics, 2020-04, Vol.16 (4), p.e1008643-e1008643 [Peer Reviewed Journal]2020 Mutai et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2020 Mutai et al 2020 Mutai et al ;ISSN: 1553-7404 ;ISSN: 1553-7390 ;EISSN: 1553-7404 ;DOI: 10.1371/journal.pgen.1008643 ;PMID: 32294086Full text available |
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8 |
Material Type: Article
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Characteristic face: a key indicator for direct diagnosis of 22q11.2 deletions in Chinese velocardiofacial syndrome patientsPloS one, 2013-01, Vol.8 (1), p.e54404 [Peer Reviewed Journal]COPYRIGHT 2013 Public Library of Science ;COPYRIGHT 2013 Public Library of Science ;2013 Wu et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License: https://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2013 Wu et al 2013 Wu et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0054404 ;PMID: 23342150Full text available |
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Material Type: Article
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The association between Zika virus infection and microcephaly in Brazil 2015-2017: An observational analysis of over 4 million birthsPLoS medicine, 2019-03, Vol.16 (3), p.e1002755-e1002755 [Peer Reviewed Journal]COPYRIGHT 2019 Public Library of Science ;COPYRIGHT 2019 Public Library of Science ;2019 Brady et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2019 Brady et al 2019 Brady et al ;ISSN: 1549-1676 ;ISSN: 1549-1277 ;EISSN: 1549-1676 ;DOI: 10.1371/journal.pmed.1002755 ;PMID: 30835728Full text available |
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Material Type: Article
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Acute Toxoplasma infection in pregnant women worldwide: A systematic review and meta-analysisPLoS neglected tropical diseases, 2019-10, Vol.13 (10), p.e0007807 [Peer Reviewed Journal]COPYRIGHT 2019 Public Library of Science ;COPYRIGHT 2019 Public Library of Science ;2019 Rostami et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2019 Rostami et al 2019 Rostami et al ;ISSN: 1935-2735 ;ISSN: 1935-2727 ;EISSN: 1935-2735 ;DOI: 10.1371/journal.pntd.0007807 ;PMID: 31609966Full text available |
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Material Type: Article
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Increasing the diagnostic yield of exome sequencing by copy number variant analysisPloS one, 2018-12, Vol.13 (12), p.e0209185-e0209185 [Peer Reviewed Journal]COPYRIGHT 2018 Public Library of Science ;COPYRIGHT 2018 Public Library of Science ;2018 Marchuk et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2018 Marchuk et al 2018 Marchuk et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0209185 ;PMID: 30557390Full text available |
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Material Type: Article
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Metabolomic heterogeneity of pulmonary arterial hypertensionPloS one, 2014-02, Vol.9 (2), p.e88727-e88727 [Peer Reviewed Journal]COPYRIGHT 2014 Public Library of Science ;COPYRIGHT 2014 Public Library of Science ;2014 Zhao et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2014 Zhao et al 2014 Zhao et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0088727 ;PMID: 24533144Full text available |
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Material Type: Article
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Systematic review and meta-analysis of the effectiveness of pre-pregnancy care for women with diabetes for improving maternal and perinatal outcomesPloS one, 2020-08, Vol.15 (8), p.e0237571-e0237571 [Peer Reviewed Journal]COPYRIGHT 2020 Public Library of Science ;COPYRIGHT 2020 Public Library of Science ;2020 Wahabi et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2020 Wahabi et al 2020 Wahabi et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0237571 ;PMID: 32810195Full text available |
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Material Type: Article
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Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation SequencingScientific reports, 2018-05, Vol.8 (1), p.8279-11, Article 8279 [Peer Reviewed Journal]2018. 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) 2018 ;ISSN: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-018-26524-z ;PMID: 29844330Full text available |
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Material Type: Article
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Genome sequencing as a diagnostic testCanadian Medical Association journal (CMAJ), 2021-10, Vol.193 (42), p.E1626-E1629 [Peer Reviewed Journal]COPYRIGHT 2021 CMA Joule Inc. ;Copyright Joule Inc Oct 25, 2021 ;2021 CMA Joule Inc. or its licensors 2021 ;ISSN: 0820-3946 ;EISSN: 1488-2329 ;DOI: 10.1503/CMAJ.210549 ;PMID: 34697096Full text available |
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Material Type: Article
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Risk Factors for Acute Kidney Injury after Congenital Cardiac Surgery in Infants and Children: A Retrospective Observational StudyPloS one, 2016-11, Vol.11 (11), p.e0166328-e0166328 [Peer Reviewed Journal]COPYRIGHT 2016 Public Library of Science ;COPYRIGHT 2016 Public Library of Science ;2016 Park et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2016 Park et al 2016 Park et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0166328 ;PMID: 27832187Full text available |
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Material Type: Article
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Risk of Major Cardiovascular Events in People with Down SyndromePloS one, 2015-09, Vol.10 (9), p.e0137093-e0137093 [Peer Reviewed Journal]COPYRIGHT 2015 Public Library of Science ;COPYRIGHT 2015 Public Library of Science ;2015 Sobey et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2015 Sobey et al 2015 Sobey et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0137093 ;PMID: 26421620Full text available |
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Material Type: Article
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Atrial fibrillation and stroke in adult patients with atrial septal defect and the long-term effect of closureHeart (British Cardiac Society), 2015-05, Vol.101 (9), p.706-711 [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: 1355-6037 ;EISSN: 1468-201X ;DOI: 10.1136/heartjnl-2014-306552 ;PMID: 25691512Full text available |
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Material Type: Article
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Ocular and uteroplacental pathology in a macaque pregnancy with congenital Zika virus infectionPloS one, 2018-01, Vol.13 (1), p.e0190617-e0190617 [Peer Reviewed Journal]COPYRIGHT 2018 Public Library of Science ;COPYRIGHT 2018 Public Library of Science ;This is an open access article, free of all copyright, and may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose. The work is made available under the Creative Commons CC0 public domain dedication: https://creativecommons.org/publicdomain/zero/1.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0190617 ;PMID: 29381706Full text available |
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20 |
Material Type: Article
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A Systematic Review and Meta-Analysis of the Efficacy of Anti-Toxoplasma gondii Medicines in HumansPloS one, 2015-09, Vol.10 (9), p.e0138204-e0138204 [Peer Reviewed Journal]COPYRIGHT 2015 Public Library of Science ;COPYRIGHT 2015 Public Library of Science ;2015 Wei et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2015 Wei et al 2015 Wei et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0138204 ;PMID: 26394212Full text available |