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| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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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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Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort studyOrphanet journal of rare diseases, 2019-01, Vol.14 (1), p.16-16, Article 16 [Peer Reviewed Journal]COPYRIGHT 2019 BioMed Central Ltd. ;COPYRIGHT 2019 BioMed Central Ltd. ;Copyright © 2019. 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). 2019 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-018-0976-2 ;PMID: 30642344Full text available |
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A case‐control study of brain structure and behavioral characteristics in 47,XXX syndromeGenes, brain and behavior, 2014-11, Vol.13 (8), p.841-849 [Peer Reviewed Journal]Published 2014. This article is a U.S. Government work and is in the public domain in the USA. ;ISSN: 1601-1848 ;EISSN: 1601-183X ;DOI: 10.1111/gbb.12180 ;PMID: 25287572 ;CODEN: GBBEAOFull text available |
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A rare case of NIPT discrepancy caused by the placental mosaicism of three different karyotypes, 47,XXX, 47,XX,+21, and 48,XXX,+21Molecular genetics & genomic medicine, 2020-08, Vol.8 (8), p.e1279-n/a [Peer Reviewed Journal]2020 The Authors. published by Wiley Periodicals LLC ;2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. ;2020. This work is published under http://creativecommons.org/licenses/by-nc-nd/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 2324-9269 ;EISSN: 2324-9269 ;DOI: 10.1002/mgg3.1279 ;PMID: 32463164Full text available |
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Altered subcortical and cortical brain morphology in adult women with 47,XXX: a 7-Tesla magnetic resonance imaging studyJournal of neurodevelopmental disorders, 2022-02, Vol.14 (1), p.14-14, Article 14 [Peer Reviewed Journal]2022. The Author(s). ;COPYRIGHT 2022 BioMed Central Ltd. ;The Author(s) 2022 ;ISSN: 1866-1947 ;EISSN: 1866-1955 ;DOI: 10.1186/s11689-022-09425-1 ;PMID: 35196987Full text available |
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Healthcare and support experiences of adolescents and young adults diagnosed with 47,XXY, 47,XXX, and 48,XXYYJournal of community genetics, 2024-02, Vol.15 (1), p.75-83 [Peer Reviewed Journal]The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2023. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law. ;2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature. ;ISSN: 1868-310X ;ISSN: 1868-6001 ;EISSN: 1868-6001 ;DOI: 10.1007/s12687-023-00682-8 ;PMID: 37864743Full text available |
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The impact of sex chromosome trisomies (XXX, XXY, XYY) on gaze towards faces and affect recognition: a cross-sectional eye tracking studyJournal of neurodevelopmental disorders, 2022-08, Vol.14 (1), p.44-44, Article 44 [Peer Reviewed Journal]2022. The Author(s). ;COPYRIGHT 2022 BioMed Central Ltd. ;2022. 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) 2022 ;ISSN: 1866-1947 ;EISSN: 1866-1955 ;DOI: 10.1186/s11689-022-09453-x ;PMID: 35918661Full text available |
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Autoimmune Myelofibrosis Accompanied by Sjögren's Syndrome in a 47, XXX/46, XX Mosaic WomanInternal Medicine, 2014, Vol.53(7), pp.783-787 [Peer Reviewed Journal]2014 by The Japanese Society of Internal Medicine ;ISSN: 0918-2918 ;EISSN: 1349-7235 ;DOI: 10.2169/internalmedicine.53.1325 ;PMID: 24694497Full text available |
| 9 |
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Ovarian reserve evaluation in a woman with 45,X/47,XXX mosaicism: A case report and a review of literatureMolecular genetics & genomic medicine, 2019-07, Vol.7 (7), p.e00732-n/a [Peer Reviewed Journal]2019 The Authors. published by Wiley Periodicals, Inc. ;2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. ;Copyright John Wiley & Sons, Inc. Jul 2019 ;ISSN: 2324-9269 ;EISSN: 2324-9269 ;DOI: 10.1002/mgg3.732 ;PMID: 31070017Full text available |
| 10 |
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Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndromeJournal of medical genetics, 2002-03, Vol.39 (3), p.217-221 [Peer Reviewed Journal]Copyright 2002 Journal of Medical Genetics ;2002 INIST-CNRS ;COPYRIGHT 2002 BMJ Publishing Group Ltd. ;Copyright: 2002 Copyright 2002 Journal of Medical Genetics ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.39.3.217 ;PMID: 11897829 ;CODEN: JMDGAEFull text available |
| 11 |
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Acromegaly Accompanied by Turner Syndrome with 47,XXX/45,X/46,XX MosaicismInternal Medicine, 2009, Vol.48(6), pp.447-453 [Peer Reviewed Journal]2009 by The Japanese Society of Internal Medicine ;ISSN: 0918-2918 ;EISSN: 1349-7235 ;DOI: 10.2169/internalmedicine.48.1157 ;PMID: 19293545Full text available |
| 12 |
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Pituitary tumor in a woman with a 47,XXX karyotype--case reportMedical science monitor, 2001-03, Vol.7 (2), p.304-307ISSN: 1234-1010 ;EISSN: 1643-3750 ;PMID: 11257740Full text available |
| 13 |
Material Type: Article
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Doctors’ experiences of adverse events in secondary care: the professional and personal impactClinical medicine (London, England), 2014-12, Vol.14 (6), p.585-590 [Peer Reviewed Journal]2014 © 2014 THE AUTHORS. Published by Elsevier Limited on behalf of the Royal College of Physicians. ;2015 INIST-CNRS ;2014 Royal College of Physicians. ;2014 Royal College of Physicians 2014 ;ISSN: 1470-2118 ;EISSN: 1473-4893 ;DOI: 10.7861/clinmedicine.14-6-585 ;PMID: 25468840Full text available |
| 14 |
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Prenatal diagnosis of fetal hydrops associated with Down's syndrome in a 40‐year‐old woman with a mosaic Turner's karyotype (45,X/47,XXX)Acta obstetricia et gynecologica Scandinavica, 2003-08, Vol.82 (8), p.773-774 [Peer Reviewed Journal]ISSN: 0001-6349 ;EISSN: 1600-0412 ;DOI: 10.1034/j.1600-0412.2003.00071.x ;PMID: 12848653Full text available |
| 15 |
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The parental origin of the extra X chromosome in 47,XXX femalesAmerican journal of human genetics, 1990-04, Vol.46 (4), p.754-761 [Peer Reviewed Journal]1991 INIST-CNRS ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;PMID: 2316522 ;CODEN: AJHGAGFull text available |
| 16 |
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Genetic Counseling and Prenatal Diagnosis of Triploidy During the Second Trimester of PregnancyMedicinski arhiv, 2017-04, Vol.71 (2), p.144-147 [Peer Reviewed Journal]Copyright Academy of Medical Sciences of Bosnia and Herzegovina 2017 ;Copyright: © 2017 Milenko Kolarski, Begzudin Ahmetovic, Maja Beres, Radomir Topic, Vedran Nikic, Ivana Kavecan, Semin Sabic 2017 ;ISSN: 0350-199X ;EISSN: 1986-5961 ;DOI: 10.5455/medarh.2017.71.144-147 ;PMID: 28790549Full text available |
| 17 |
Material Type: Article
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Double non-disjunction in maternal meiosis II giving rise to a fetus with 48,XXX,+21Journal of medical genetics, 1995-08, Vol.32 (8), p.650-653 [Peer Reviewed Journal]1995 INIST-CNRS ;Copyright BMJ Publishing Group LTD Aug 1995 ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.32.8.650 ;PMID: 7473661 ;CODEN: JMDGAEFull text available |
| 18 |
Material Type: Article
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A 45,X/46,XX/47,XXX female mosaic detected by cytogenetic analysis of unfertilized IVF oocytesJournal of assisted reproduction and genetics, 1993-08, Vol.10 (6), p.434-437 [Peer Reviewed Journal]1994 INIST-CNRS ;ISSN: 1058-0468 ;EISSN: 1573-7330 ;DOI: 10.1007/BF01228094 ;PMID: 8019092 ;CODEN: JARGE4Full text available |
| 19 |
Material Type: Article
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Prenatal diagnosis and gonadal findings in X/XXX mosaicismJournal of medical genetics, 1977-04, Vol.14 (2), p.120-123 [Peer Reviewed Journal]Copyright BMJ Publishing Group LTD Apr 1977 ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.14.2.120 ;PMID: 856232 ;CODEN: JMDGAEFull text available |
| 20 |
Material Type: Article
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Prenatal monitoring and genetic counseling in a 47, XXX female with the oro-facial digital syndrome-type 1American journal of human genetics, 1981-07, Vol.33 (4), p.649-650 [Peer Reviewed Journal]ISSN: 0002-9297 ;EISSN: 1537-6605 ;PMID: 7258190Full text available |
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