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Rare combination of simple virilizing form of 21-hydroxylase deficiency, Graves' disease and 47, XXX in a woman: A case reportMedicine (Baltimore), 2022-10, Vol.101 (43), p.e31443-e31443 [Peer Reviewed Journal]Copyright © 2022 the Author(s). Published by Wolters Kluwer Health, Inc. ;Copyright © 2022 the Author(s). Published by Wolters Kluwer Health, Inc. 2022 ;ISSN: 0025-7974 ;EISSN: 1536-5964 ;DOI: 10.1097/MD.0000000000031443 ;PMID: 36316845Full text available |
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Mortality and incidence in women with 47,XXX and variantsAmerican journal of medical genetics. Part A, 2010-02, Vol.152A (2), p.367-372 [Peer Reviewed Journal]Copyright © 2010 Wiley‐Liss, Inc. ;Copyright 2010 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.33214 ;PMID: 20101696Full text available |
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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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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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Material Type: Article
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Venous Tortuosity in COL4A2 -Associated Gould SyndromeOphthalmic surgery, lasers & imaging retina, 2023-09, Vol.54 (9), p.536-539 [Peer Reviewed Journal]COPYRIGHT 2023 Slack, Inc. ;ISSN: 2325-8160 ;EISSN: 2325-8179 ;DOI: 10.3928/23258160-20230811-01Full text available |
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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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Congenital heart disease and cardiac procedural outcomes in patients with trisomy 21 and Turner syndromeCongenital heart disease, 2017-11, Vol.12 (6), p.820-827 [Peer Reviewed Journal]2017 Wiley Periodicals, Inc. ;ISSN: 1747-079X ;EISSN: 1747-0803 ;DOI: 10.1111/chd.12521 ;PMID: 28736822Full text available |
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Material Type: Article
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Clinical Characteristics and Surgical Outcomes of Turkish Patients With Pediatric Glaucoma Who Underwent Glaucoma Surgery in a University HospitalJournal of pediatric ophthalmology and strabismus, 2023-12, Vol.61 (3), p.188-10 [Peer Reviewed Journal]COPYRIGHT 2023 Slack, Inc. ;Copyright 2023, SLACK Incorporated ;Copyright 2024, SLACK Incorporated ;ISSN: 0191-3913 ;ISSN: 0022-0124 ;EISSN: 1938-2405 ;EISSN: 1938-2472 ;DOI: 10.3928/01913913-20231026-04 ;PMID: 38112386Full text available |
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Material Type: Article
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Long-term neurodevelopment in children with resected congenital lung abnormalitiesEuropean journal of pediatrics, 2023-09, Vol.182 (9), p.3845-3855 [Peer Reviewed Journal]The Author(s) 2023 ;EISSN: 1432-1076 ;DOI: 10.1007/s00431-023-05054-5Digital Resources/Online E-Resources |
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10 |
Material Type: Article
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Spectrum of external genital anomalies in disorders of Sex Development at Children Hospital & Institute of Child Health, Lahore, PakistanPakistan journal of medical sciences, 2021-02, Vol.37 (1), p.244-249 [Peer Reviewed Journal]Copyright: © Pakistan Journal of Medical Sciences. ;COPYRIGHT 2021 Knowledge Bylanes ;COPYRIGHT 2021 Knowledge Bylanes ;(c)2021 Pakistan Journal of Medical Sciences ;Copyright: © Pakistan Journal of Medical Sciences 2021 ;ISSN: 1682-024X ;EISSN: 1681-715X ;DOI: 10.12669/pjms.37.1.2991 ;PMID: 33437285Full text available |
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Material Type: Article
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Highlights from this issueBritish journal of ophthalmology, 2017-06, Vol.101 (6), p.i [Peer Reviewed Journal]Copyright: 2017 (c) Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted. ;ISSN: 0007-1161 ;EISSN: 1468-2079 ;DOI: 10.1136/bjophthalmol-2017-310692 ;CODEN: BJOPALFull text available |
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Material Type: Article
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Non-human Papillomavirus Cervical Mucinous Adenocarcinoma in a Phenotypic Male with Congenital Adrenal HyperplasiaCurēus (Palo Alto, CA), 2018-11, Vol.10 (11), p.e3607 [Peer Reviewed Journal]Copyright © 2018, Heim et al. This work is published 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. ;Copyright © 2018, Heim et al. 2018 Heim et al. ;ISSN: 2168-8184 ;EISSN: 2168-8184 ;DOI: 10.7759/cureus.3607 ;PMID: 30680268Full text available |
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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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Material Type: Article
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Sirenomelia: a review on embryogenic enviromental theories, novel three-dimensional ultrasound imaging and first trimester diagnosis in a case of mosaic 69,XXX/46,XX fetusArchives of gynecology and obstetrics, 2013-07, Vol.288 (1), p.3-11 [Peer Reviewed Journal]Springer-Verlag Berlin Heidelberg 2013 ;Archives of Gynecology and Obstetrics is a copyright of Springer, (2013). All Rights Reserved. ;ISSN: 0932-0067 ;EISSN: 1432-0711 ;DOI: 10.1007/s00404-013-2847-3 ;PMID: 23625330Full text available |
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Material Type: Article
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Intestinal Atresia, Encephalocele, and Cardiac Malformations in Infants with 47,XXX: Expansion of the Phenotypic Spectrum and a Review of the LiteratureFetal diagnosis and therapy, 2010-03, Vol.27 (2), p.113-117 [Peer Reviewed Journal]2010 S. Karger AG, Basel ;2015 INIST-CNRS ;2010 S. Karger AG, Basel. ;ISSN: 1015-3837 ;EISSN: 1421-9964 ;DOI: 10.1159/000284929 ;PMID: 20160426Full text available |
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Material Type: Article
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Overview of adult congenital heart transplantsAnnals of cardiothoracic surgery, 2018-01, Vol.7 (1), p.143-1512018 Annals of Cardiothoracic Surgery. All rights reserved. 2018 Annals of Cardiothoracic Surgery. ;ISSN: 2225-319X ;EISSN: 2304-1021 ;DOI: 10.21037/acs.2018.01.01 ;PMID: 29492392Full text available |
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17 |
Material Type: Article
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Turner syndrome: mechanisms and managementNature reviews. Endocrinology, 2019-10, Vol.15 (10), p.601-614 [Peer Reviewed Journal]COPYRIGHT 2019 Nature Publishing Group ;Copyright Nature Publishing Group Oct 2019 ;ISSN: 1759-5029 ;EISSN: 1759-5037 ;DOI: 10.1038/s41574-019-0224-4 ;PMID: 31213699Full text available |
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Material Type: Article
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Exploring Shared Susceptibility between Two Neural Crest Cells Originating Conditions: Neuroblastoma and Congenital Heart DiseaseGenes, 2019-08, Vol.10 (9), p.663 [Peer Reviewed Journal]2019 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 (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. ;2019 by the authors. 2019 ;ISSN: 2073-4425 ;EISSN: 2073-4425 ;DOI: 10.3390/genes10090663 ;PMID: 31480262Full text available |
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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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20 |
Material Type: Article
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Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in BrazilScientific reports, 2022-09, Vol.12 (1), p.15184-15184, Article 15184 [Peer Reviewed Journal]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: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-022-19274-6 ;PMID: 36071085Full text available |