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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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Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXXGenes, 2021-06, Vol.12 (6), p.798 [Peer Reviewed Journal]2021 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. ;2021 by the authors. 2021 ;ISSN: 2073-4425 ;EISSN: 2073-4425 ;DOI: 10.3390/genes12060798 ;PMID: 34073864Full text available |
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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 |
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The eXtraordinarY Kids Clinic: an interdisciplinary model of care for children and adolescents with sex chromosome aneuploidyJournal of multidisciplinary healthcare, 2015, Vol.8 (default), p.323-334 [Peer Reviewed Journal]COPYRIGHT 2015 Dove Medical Press Limited ;COPYRIGHT 2015 Dove Medical Press Limited ;2015. This work is licensed under https://creativecommons.org/licenses/by-nc/3.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2015 Tartaglia et al. This work is published by Dove Medical Press Limited, and licensed under Creative Commons Attribution – Non Commercial (unported, v3.0) License 2015 ;ISSN: 1178-2390 ;EISSN: 1178-2390 ;DOI: 10.2147/JMDH.S80242 ;PMID: 26229481Full text available |
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The evolutionary history of Drosophila buzzatii. XXX. Mitochondrial DNA polymorphism in original and colonizing populationsMolecular biology and evolution, 1996-02, Vol.13 (2), p.314-323 [Peer Reviewed Journal]ISSN: 0737-4038 ;EISSN: 1537-1719 ;DOI: 10.1093/oxfordjournals.molbev.a025591 ;PMID: 8587497Full text available |
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Relationship between surgical time and postoperative complications in senile patients with hip fracturesChinese journal of traumatology, 2010-06, Vol.13 (3), p.167-172 [Peer Reviewed Journal]2010 The Editorial Board of Biomedical and Environmental Sciences ;Copyright © Wanfang Data Co. Ltd. All Rights Reserved. ;ISSN: 1008-1275 ;DOI: 10.3760/cma.j.issn.1008-1275.2010.03.007 ;PMID: 20515595Full text available |
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Material Type: Article
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Parasites of domestic and wild animals in South Africa. XXX. Ectoparasites of kudus in the eastern Transvaal Lowveld and the eastern Cape ProvinceOnderstepoort journal of veterinary research, 1992, Vol.59 (4), p.259-273 [Peer Reviewed Journal]ISSN: 0030-2465 ;EISSN: 2219-0635 ;PMID: 1297956Digital Resources/Online E-Resources |
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Material Type: Article
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Noninvasive prenatal testing for assessing foetal sex chromosome aneuploidy: a retrospective study of 45,773 casesMolecular cytogenetics, 2021-01, Vol.14 (1), p.1-1, Article 1 [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/s13039-020-00521-2 ;PMID: 33407708Full text available |
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Material Type: Article
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Incidence of X and Y Chromosomal Aneuploidy in a Large Child Bearing PopulationPloS one, 2016-08, Vol.11 (8), p.e0161045-e0161045 [Peer Reviewed Journal]COPYRIGHT 2016 Public Library of Science ;COPYRIGHT 2016 Public Library of Science ;2016 Samango-Sprouse 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. ;2016 Samango-Sprouse et al 2016 Samango-Sprouse et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0161045 ;PMID: 27512996Full text available |
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Material Type: Article
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Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disordersNature communications, 2019-10, Vol.10 (1), p.4897-10, Article 4897 [Peer Reviewed Journal]2019. 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) 2019 ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-019-12869-0 ;PMID: 31653860Full text available |
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Material Type: Article
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Which neurodevelopmental disorders get researched and why?PloS one, 2010-11, Vol.5 (11), p.e15112 [Peer Reviewed Journal]COPYRIGHT 2010 Public Library of Science ;COPYRIGHT 2010 Public Library of Science ;2010 Dorothy V. M. Bishop. 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. ;Dorothy V. M. Bishop. 2010 ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0015112 ;PMID: 21152085Full text available |
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Material Type: Article
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Acetylproteomic Analysis Reveals Functional Implications of Lysine Acetylation in Human Spermatozoa (sperm)[S]Molecular & cellular proteomics, 2015-04, Vol.14 (4), p.1009-1023 [Peer Reviewed Journal]2015 © 2015 ASBMB. Currently published by Elsevier Inc; originally published by American Society for Biochemistry and Molecular Biology. ;2015 by The American Society for Biochemistry and Molecular Biology, Inc. ;2015 by The American Society for Biochemistry and Molecular Biology, Inc. 2015 ;ISSN: 1535-9476 ;EISSN: 1535-9484 ;DOI: 10.1074/mcp.M114.041384 ;PMID: 25680958Full text available |
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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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The probability to initiate X chromosome inactivation is determined by the X to autosomal ratio and X chromosome specific allelic propertiesPloS one, 2009-05, Vol.4 (5), p.e5616-e5616 [Peer Reviewed Journal]COPYRIGHT 2009 Public Library of Science ;2009 Monkhorst et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License (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. ;Monkhorst et al. 2009 ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0005616 ;PMID: 19440388Full text available |
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Material Type: Article
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Autosomal sex-associated co-methylated regions predict biological sex from DNA methylationNucleic acids research, 2021-09, Vol.49 (16), p.9097-9116 [Peer Reviewed Journal]The Author(s) 2021. Published by Oxford University Press on behalf of Nucleic Acids Research. 2021 ;The Author(s) 2021. Published by Oxford University Press on behalf of Nucleic Acids Research. ;ISSN: 0305-1048 ;EISSN: 1362-4962 ;DOI: 10.1093/nar/gkab682 ;PMID: 34403484Full text available |
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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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Material Type: Article
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Regulation of alternative VEGF-A mRNA splicing is a therapeutic target for analgesiaNeurobiology of disease, 2014-11, Vol.71, p.245-259 [Peer Reviewed Journal]The Authors ;2014 The Authors ;Copyright © 2014. Published by Elsevier Inc. ;2014 University of Nottingham. Published by Elsevier Inc. 2014 ;ISSN: 0969-9961 ;EISSN: 1095-953X ;DOI: 10.1016/j.nbd.2014.08.012 ;PMID: 25151644Digital Resources/Online E-Resources |
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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 |
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Non‐invasive prenatal testing for the prenatal screening of sex chromosome aneuploidies: A systematic review and meta‐analysis of diagnostic test accuracy studiesMolecular genetics & genomic medicine, 2021-05, Vol.9 (5), p.e1654-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/mgg3.1654 ;PMID: 33755350Full text available |
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Material Type: Article
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Autism spectrum disorder associated with 49,XYYYY: case report and review of the literatureBMC medical genetics, 2017-01, Vol.18 (1), p.9-9, Article 9 [Peer Reviewed Journal]COPYRIGHT 2017 BioMed Central Ltd. ;COPYRIGHT 2017 BioMed Central Ltd. ;Copyright BioMed Central 2017 ;Distributed under a Creative Commons Attribution 4.0 International License ;The Author(s). 2017 ;ISSN: 1471-2350 ;EISSN: 1471-2350 ;DOI: 10.1186/s12881-017-0371-1 ;PMID: 28137251Full text available |