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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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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 |
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Material Type: Article
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Phenotype, ovarian function, and growth in patients with 45,X/47,XXX Turner mosaicism: Implications for prenatal counseling and estrogen therapy at pubertyThe Journal of pediatrics, 2001-11, Vol.139 (5), p.724-728 [Peer Reviewed Journal]2001 Mosby, Inc. ;2002 INIST-CNRS ;ISSN: 0022-3476 ;EISSN: 1097-6833 ;DOI: 10.1067/mpd.2001.118571 ;PMID: 11713453 ;CODEN: JOPDABFull text available |
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Material Type: Article
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Reduced recombination in maternal meiosis coupled with non-disjunction at meiosis II leading to recurrent 47,XXXChromosome research, 2004-01, Vol.12 (2), p.125-132 [Peer Reviewed Journal]Kluwer Academic Publishers 2004. ;ISSN: 0967-3849 ;EISSN: 1573-6849 ;DOI: 10.1023/B:CHRO.0000013164.56757.bd ;PMID: 15053482Full text available |
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5 |
Material Type: Article
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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 |
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6 |
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47,XXX male: A clinical and molecular studyAmerican journal of medical genetics, 2001-02, Vol.98 (4), p.353-356 [Peer Reviewed Journal]Copyright © 2001 Wiley‐Liss, Inc. ;2001 INIST-CNRS ;Copyright 2001 Wiley-Liss, Inc. ;ISSN: 0148-7299 ;EISSN: 1096-8628 ;DOI: 10.1002/1096-8628(20010201)98:4<353::AID-AJMG1110>3.0.CO;2-D ;PMID: 11170081 ;CODEN: AJMGDAFull text available |
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7 |
Material Type: Article
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Normal growth and normalization of hypergonadotropic hypogonadism in atypical turner syndrome (45,X/46,XX/47,XXX) : correlation of body height with distribution of cell linesEuropean journal of pediatrics, 1994-06, Vol.153 (6), p.451-455 [Peer Reviewed Journal]1994 INIST-CNRS ;ISSN: 0340-6199 ;EISSN: 1432-1076 ;DOI: 10.1007/BF01983411 ;PMID: 8088302 ;CODEN: EJPEDTFull text available |
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8 |
Material Type: Article
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Fifty-one prenatally diagnosed children and adolescents with sex chromosome abnormalitiesAmerican journal of medical genetics, 2002-06, Vol.110 (1), p.11-18 [Peer Reviewed Journal]Copyright © 2002 Wiley‐Liss, Inc. ;2002 INIST-CNRS ;Copyright 2002 Wiley-Liss, Inc. ;ISSN: 0148-7299 ;EISSN: 1096-8628 ;DOI: 10.1002/ajmg.10394 ;PMID: 12116265 ;CODEN: AJMGDAFull text available |
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9 |
Material Type: Article
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Analysis of two 47,XXX males reveals X-Y interchange and maternal or paternal nondisjunctionHuman genetics, 1989-02, Vol.81 (3), p.247-251 [Peer Reviewed Journal]1989 INIST-CNRS ;ISSN: 0340-6717 ;EISSN: 1432-1203 ;DOI: 10.1007/BF00278998 ;PMID: 2921034 ;CODEN: HUGEDQFull text available |
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10 |
Material Type: Article
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47,XXX chromosome constitution in a maleJournal of medical genetics, 1980-02, Vol.17 (1), p.62-66 [Peer Reviewed Journal]Copyright BMJ Publishing Group LTD Feb 1980 ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.17.1.62 ;PMID: 7189218 ;CODEN: JMDGAEFull text available |
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11 |
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De subitaneis mortibus. XXX. Observations on the pathophysiology of the long QT syndromes with special reference to the neuropathology of the heartCirculation (New York, N.Y.), 1978-06, Vol.57 (6), p.1221-1231 [Peer Reviewed Journal]ISSN: 0009-7322 ;EISSN: 1524-4539 ;DOI: 10.1161/01.CIR.57.6.1221 ;PMID: 639246Full text available |
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12 |
Material Type: Article
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Motor nerve conduction in 47, XXY and 48, XXYY males, and 47, XXX and 45, X femalesClinical genetics, 1974-01, Vol.6 (3), p.205-215 [Peer Reviewed Journal]ISSN: 0009-9163 ;EISSN: 1399-0004 ;DOI: 10.1111/j.1399-0004.1974.tb00653.x ;PMID: 4426136Full text available |
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13 |
Material Type: Article
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VEGF in the lung: a role for novel isoformsAmerican journal of physiology. Lung cellular and molecular physiology, 2010-06, Vol.298 (6), p.L768-L774 [Peer Reviewed Journal]Copyright American Physiological Society Jun 2010 ;Copyright © 2010 the American Physiological Society ;ISSN: 1040-0605 ;EISSN: 1522-1504 ;DOI: 10.1152/ajplung.00353.2009 ;PMID: 20228180Full text available |
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14 |
Material Type: Article
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The use of oocyte cryopreservation for fertility preservation in patients with sex chromosome disorders: a case series describing outcomesJournal of assisted reproduction and genetics, 2022-05, Vol.39 (5), p.1143-1153 [Peer Reviewed Journal]The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature 2022 ;2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature. ;The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature 2022. ;ISSN: 1058-0468 ;EISSN: 1573-7330 ;DOI: 10.1007/s10815-022-02469-1 ;PMID: 35320443Full text available |
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15 |
Material Type: Article
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Volumetric magnetic resonance imaging study of the brain in subjects with sex chromosome aneuploidiesJournal of neurology, neurosurgery and psychiatry, 1999-05, Vol.66 (5), p.628-632 [Peer Reviewed Journal]Journal of Neurology, Neurosurgery, and Psychiatry ;1999 INIST-CNRS ;Copyright: 1999 Journal of Neurology, Neurosurgery, and Psychiatry ;ISSN: 0022-3050 ;EISSN: 1468-330X ;DOI: 10.1136/jnnp.66.5.628 ;PMID: 10209175 ;CODEN: JNNPAUFull text available |
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16 |
Material Type: Article
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Prevalence of adolescent idiopathic scoliosis in Shijiazhuang, Hebei, China: a cross-sectional studyEuropean spine journal, 2024-02, Vol.33 (2), p.673-679 [Peer Reviewed Journal]The Author(s) 2023 ;2023. The Author(s). ;The Author(s) 2023. 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. ;ISSN: 0940-6719 ;EISSN: 1432-0932 ;DOI: 10.1007/s00586-023-08030-7 ;PMID: 38006475Full text available |
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17 |
Material Type: Article
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A dual-route perspective on brain activation in response to visual words: Evidence for a length by lexicality interaction in the visual word form area (VWFA)NeuroImage (Orlando, Fla.), 2010-02, Vol.49 (3), p.2649-2661 [Peer Reviewed Journal]2009 Elsevier Inc. ;Copyright (c) 2009 Elsevier Inc. All rights reserved. ;Copyright Elsevier Limited Feb 1, 2010 ;ISSN: 1053-8119 ;EISSN: 1095-9572 ;DOI: 10.1016/j.neuroimage.2009.10.082 ;PMID: 19896538Full text available |
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18 |
Material Type: Article
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Evidence-based recommendations for delivering the diagnosis of X & Y chromosome multisomies in children, adolescents, and young adults: an integrative reviewBMC pediatrics, 2024-04, Vol.24 (1), p.263-263 [Peer Reviewed Journal]2024. The Author(s). ;COPYRIGHT 2024 BioMed Central Ltd. ;2024. 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) 2024 ;ISSN: 1471-2431 ;EISSN: 1471-2431 ;DOI: 10.1186/s12887-024-04723-0 ;PMID: 38649921Full text available |
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19 |
Material Type: Article
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Subcostal Transversus Abdominis Plane Block for Laparoscopic Sleeve Gastrectomy, Is It Worth the Time?Obesity surgery, 2019-10, Vol.29 (10), p.3188-3194 [Peer Reviewed Journal]Springer Science+Business Media, LLC, part of Springer Nature 2019 ;Obesity Surgery is a copyright of Springer, (2019). All Rights Reserved. ;ISSN: 0960-8923 ;EISSN: 1708-0428 ;DOI: 10.1007/s11695-019-03984-4 ;PMID: 31175560Full text available |
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Material Type: Article
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Eosinophilic esophagitis in individuals with sex chromosome aneuploidies: Clinical presentations and management implicationsMolecular genetics & genomic medicine, 2021-12, Vol.9 (12), p.e1833-n/a [Peer Reviewed Journal]2021 The Authors. published by Wiley Periodicals LLC. ;2021 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. ;2021. 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/mgg3.1833 ;PMID: 34738344Full text available |