Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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Material Type: Article
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Turner's syndrome mosaicism in girls with neurodevelopmental disorders: a cohort study and hypothesisMolecular cytogenetics, 2021-02, Vol.14 (1), p.9-9, Article 9 [Peer Reviewed Journal]COPYRIGHT 2021 BioMed Central Ltd. ;2021. This work is licensed 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) 2021 ;ISSN: 1755-8166 ;EISSN: 1755-8166 ;DOI: 10.1186/s13039-021-00529-2 ;PMID: 33573679Full text available |
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2 |
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.1-10 [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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3 |
Material Type: Article
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Venous Tortuosity in COL4A2 -Associated Gould SyndromeOphthalmic surgery, lasers & imaging, 2023-09, Vol.54 (9), p.536-539 [Peer Reviewed Journal]COPYRIGHT 2023 Slack, Inc. ;Copyright 2023, SLACK Incorporated ;ISSN: 2325-8160 ;EISSN: 2325-8179 ;EISSN: 1938-2375 ;DOI: 10.3928/23258160-20230811-01Full text available |
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4 |
Material Type: Article
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Goltz Syndrome Combined with Triple X Syndrome, a Case ReportThe Cleft palate-craniofacial journal, 2024-03, Vol.61 (3), p.534-538 [Peer Reviewed Journal]2022, American Cleft Palate Craniofacial Association ;ISSN: 1055-6656 ;EISSN: 1545-1569 ;DOI: 10.1177/10556656221141236 ;PMID: 36443947Digital Resources/Online E-Resources |
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5 |
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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7 |
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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8 |
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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9 |
Material Type: Article
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Transition From Adolescence to Early Adulthood: Adaptation and Psychiatric Status of Women With 47,XXXJournal of the American Academy of Child and Adolescent Psychiatry, 1998-03, Vol.37 (3), p.286-291 [Peer Reviewed Journal]1998 The American Academy of Child and Adolescent Psychiatry ;1998 INIST-CNRS ;Copyright Lippincott Williams & Wilkins Mar 1998 ;ISSN: 0890-8567 ;EISSN: 1527-5418 ;DOI: 10.1097/00004583-199803000-00013 ;PMID: 9519633 ;CODEN: JAAPEEFull text available |
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10 |
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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11 |
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 |
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12 |
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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13 |
Material Type: Article
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The role of liver transplantation in the treatment of hereditary hemorrhagic telangiectasia: a short literature reviewTransplantation proceedings, 2007-07, Vol.39 (6), p.2045 [Peer Reviewed Journal]ISSN: 0041-1345 ;EISSN: 1873-2623 ;DOI: 10.1016/j.transproceed.2007.05.022 ;PMID: 17692689Digital Resources/Online E-Resources |
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14 |
Material Type: Article
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Transporting babies with known heart disease; who, what and where?Archives of disease in childhood. Fetal and neonatal edition, 2007-03, Vol.92 (2), p.F80-F81 [Peer Reviewed Journal]Copyright 2007 Archives of Disease in Childhood ;Copyright: 2007 Copyright 2007 Archives of Disease in Childhood ;Copyright ©2007 BMJ Publishing Group & Royal College of Paediatrics and Child Health ;ISSN: 1359-2998 ;EISSN: 1468-2052 ;DOI: 10.1136/adc.2006.101626 ;PMID: 17337670Full text available |
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15 |
Material Type: Article
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Prenatal and neonatal testingClinical chemistry and laboratory medicine, 2023-05, Vol.61 (s1), p.s1961 [Peer Reviewed Journal]EISSN: 1437-4331 ;DOI: 10.1515/cclm-2023-7060 ;PMID: 37037572Digital Resources/Online E-Resources |
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16 |
Material Type: Article
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Cardiovascular outcomes of pregnancy in Turner syndromeHeart (British Cardiac Society), 2021-01, Vol.107 (1), p.61-66 [Peer Reviewed Journal]Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ. ;2021 Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 1355-6037 ;EISSN: 1468-201X ;DOI: 10.1136/heartjnl-2020-316719 ;PMID: 32669396Full text available |
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17 |
Material Type: Article
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Morbidity in 47,XYY syndrome: a nationwide epidemiological study of hospital diagnoses and medication useGenetics in medicine, 2020-09, Vol.22 (9), p.1542-1551 [Peer Reviewed Journal]American College of Medical Genetics and Genomics 2020. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-020-0837-y ;PMID: 32475987Full text available |
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18 |
Material Type: Article
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TIMP3 and TIMP1 are risk genes for bicuspid aortic valve and aortopathy in Turner syndromePLoS genetics, 2018-10, Vol.14 (10), p.e1007692-e1007692 [Peer Reviewed Journal]COPYRIGHT 2018 Public Library of Science ;2018 Corbitt 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 Corbitt et al 2018 Corbitt et al ;ISSN: 1553-7404 ;ISSN: 1553-7390 ;EISSN: 1553-7404 ;DOI: 10.1371/journal.pgen.1007692 ;PMID: 30281655Full text available |
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Material Type: Article
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The Safety of Second-Generation Antipsychotics During Pregnancy: A Clinically Focused ReviewCNS drugs, 2018-04, Vol.32 (4), p.351-366 [Peer Reviewed Journal]Springer International Publishing AG, part of Springer Nature 2018 ;Copyright Springer Science & Business Media Apr 2018 ;ISSN: 1172-7047 ;EISSN: 1179-1934 ;DOI: 10.1007/s40263-018-0517-5 ;PMID: 29637530Full text available |
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20 |
Material Type: Article
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Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactylyGenetics in medicine, 2021-04, Vol.23 (4), p.679-688 [Peer Reviewed Journal]2021 The Author(s) ;The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics 2021. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-020-01052-2 ;PMID: 33442026Full text available |