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Material Type: Bài báo
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17α-HYDROXYLASE/17, 20-LYASE DEFICIENCY: CLINICAL AND MOLECULAR CHARACTERIZATION OF EIGHT CHINESE PATIENTSEndocrine practice, 2017-05, Vol.23 (5), p.576-582 [Tạp chí có phản biện]Copyright Allen Press Publishing Services May 2017 ;ISSN: 1530-891X ;EISSN: 1934-2403 ;DOI: 10.4158/EP161610.OR ;PMID: 28225307Tài liệu số/Tài liệu điện tử |
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2 |
Material Type: Bài báo
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17α-HYDROXYLASE DEFICIENCY IS AN UNDERDIAGNOSED DISEASE: HIGH FREQUENCY OF MISDIAGNOSES IN A LARGE COHORT OF BRAZILIAN PATIENTSEndocrine practice, 2018-02, Vol.24 (2), p.170-178 [Tạp chí có phản biện]Copyright Allen Press Publishing Services Feb 2018 ;ISSN: 1530-891X ;EISSN: 1934-2403 ;DOI: 10.4158/EP171987.OR ;PMID: 29144824Tài liệu số/Tài liệu điện tử |
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3 |
Material Type: Bài báo
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2 Cases of hereditary palmoplantar keratoderma. An abnormality of keratohyalin granules and keratin fibril formationDermatologica, 1984, Vol.169 (3), p.138ISSN: 0011-9075 ;PMID: 6207058Tài liệu số/Tài liệu điện tử |
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4 |
Material Type: Bài báo
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2018 AHA/ACC Guideline for the Management of Adults With Congenital Heart Disease: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice GuidelinesJournal of the American College of Cardiology, 2019-04, Vol.73 (12), p.e81-e192 [Tạp chí có phản biện]2019. American Heart Association, Inc., and the American College of Cardiology Foundation ;ISSN: 0735-1097 ;EISSN: 1558-3597 ;DOI: 10.1016/j.jacc.2018.08.1029 ;PMID: 30121239Tài liệu số/Tài liệu điện tử |
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5 |
Material Type: Bài báo
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2018 AHA/ACC Guideline for the Management of Adults With Congenital Heart Disease: Executive Summary: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice GuidelinesJournal of the American College of Cardiology, 2019-04, Vol.73 (12), p.1494-1563 [Tạp chí có phản biện]2019. American Heart Association, Inc., and American College of Cardiology Foundation ;ISSN: 0735-1097 ;EISSN: 1558-3597 ;DOI: 10.1016/j.jacc.2018.08.1028 ;PMID: 30121240Tài liệu số/Tài liệu điện tử |
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6 |
Material Type: Bài báo
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22q11 deletion: a multisystem disorder requiring multidisciplinary inputArchives of disease in childhood, 2003-06, Vol.88 (6), p.523-524 [Tạp chí có phản biện]Copyright 2003 Archives of Disease in Childhood ;2003 INIST-CNRS ;COPYRIGHT 2003 BMJ Publishing Group Ltd. ;Copyright: 2003 Copyright 2003 Archives of Disease in Childhood ;ISSN: 0003-9888 ;EISSN: 1468-2044 ;DOI: 10.1136/adc.88.6.523 ;PMID: 12765922 ;CODEN: ADCHAKTài liệu số/Tài liệu điện tử |
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Material Type: Bài báo
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29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotypeOrphanet journal of rare diseases, 2014-12, Vol.9 (1), p.207-207, Article 207 [Tạp chí có phản biện]COPYRIGHT 2014 BioMed Central Ltd. ;COPYRIGHT 2014 BioMed Central Ltd. ;2014 Monin et al.; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. ;Distributed under a Creative Commons Attribution 4.0 International License ;Monin et al.; licensee BioMed Central Ltd. 2014 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-014-0207-4 ;PMID: 25497157Tài liệu số/Tài liệu điện tử |
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8 |
Material Type: Bài báo
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3D-assisted quantitative assessment of orbital volume using an open-source software platform in a Taiwanese populationPloS one, 2015-03, Vol.10 (3), p.e0119589-e0119589 [Tạp chí có phản biện]COPYRIGHT 2015 Public Library of Science ;2015 Shyu 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 Shyu et al 2015 Shyu et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0119589 ;PMID: 25774683Tài liệu số/Tài liệu điện tử |
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9 |
Material Type: Bài báo
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3D-manufactured patient-specific models of congenital heart defects for communication in clinical practice: feasibility and acceptabilityBMJ open, 2015-04, Vol.5 (4), p.e007165-e007165 [Tạp chí có phản biện]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. ;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 This is an Open Access article distributed in accordance with the terms of the Creative Commons Attribution (CC BY 4.0) license, which permits others to distribute, remix, adapt and build upon this work, for commercial use, provided the original work is properly cited. See: 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. ;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 ;ISSN: 2044-6055 ;EISSN: 2044-6055 ;DOI: 10.1136/bmjopen-2014-007165 ;PMID: 25933810Tài liệu số/Tài liệu điện tử |
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10 |
Material Type: Bài báo
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3D MRI analysis of the lower legs of treated idiopathic congenital talipes equinovarus (clubfoot)PloS one, 2013-01, Vol.8 (1), p.e54100-e54100 [Tạp chí có phản biện]COPYRIGHT 2013 Public Library of Science ;COPYRIGHT 2013 Public Library of Science ;2013 Duce 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 Duce et al 2013 Duce et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0054100 ;PMID: 23382871Tài liệu số/Tài liệu điện tử |