Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Article
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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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2 |
Material Type: Article
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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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3 |
Material Type: Article
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Gilles de la Tourette's syndrome in a patient with 47(XXX) syndrome: a case reportJournal of medical case reports, 2011-11, Vol.5 (1), p.542-542, Article 542 [Peer Reviewed Journal]COPYRIGHT 2011 BioMed Central Ltd. ;COPYRIGHT 2011 BioMed Central Ltd. ;Copyright ©2011 Chiappedi et al; licensee BioMed Central Ltd. 2011 Chiappedi et al; licensee BioMed Central Ltd. ;ISSN: 1752-1947 ;EISSN: 1752-1947 ;DOI: 10.1186/1752-1947-5-542 ;PMID: 22054059Full text available |
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4 |
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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5 |
Material Type: Article
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Does the birth plan match what is relevant to women? Preferences of Spanish women when giving birthBMC women's health, 2024-01, Vol.24 (1), p.42-12, Article 42 [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: 1472-6874 ;EISSN: 1472-6874 ;DOI: 10.1186/s12905-023-02856-5 ;PMID: 38225596Full text available |
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6 |
Material Type: Article
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The application of NIPT using combinatorial probe-anchor synthesis to identify sex chromosomal aneuploidies (SCAs) in a cohort of 570 pregnanciesMolecular cytogenetics, 2018-12, Vol.11 (1), p.59-59, Article 59 [Peer Reviewed Journal]COPYRIGHT 2018 BioMed Central Ltd. ;Copyright © 2018. 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). 2018 ;ISSN: 1755-8166 ;EISSN: 1755-8166 ;DOI: 10.1186/s13039-018-0407-z ;PMID: 30524505Full text available |
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7 |
Material Type: Article
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Cell-free DNA screening for sex chromosomal aneuploidies in 9985 pregnancies: Italian single experienceBMC research notes, 2020-03, Vol.13 (1), p.167-167, Article 167 [Peer Reviewed Journal]COPYRIGHT 2020 BioMed Central Ltd. ;COPYRIGHT 2020 BioMed Central Ltd. ;2020. 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) 2020 ;ISSN: 1756-0500 ;EISSN: 1756-0500 ;DOI: 10.1186/s13104-020-05009-1 ;PMID: 32188487Full text available |
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8 |
Material Type: Article
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Positive predictive value estimates for noninvasive prenatal testing from data of a prenatal diagnosis laboratory and literature reviewMolecular cytogenetics, 2022-07, Vol.15 (1), p.1-29, Article 29 [Peer Reviewed Journal]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: 1755-8166 ;EISSN: 1755-8166 ;DOI: 10.1186/s13039-022-00607-z ;PMID: 35794576Full text available |
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9 |
Material Type: Article
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Reproductive and obstetric outcomes in mosaic Turner's Syndrome: a cross-sectional study and review of the literatureReproductive biology and endocrinology, 2015-06, Vol.13 (1), p.59-59, Article 59 [Peer Reviewed Journal]COPYRIGHT 2015 BioMed Central Ltd. ;Doğer et al. 2015 ;ISSN: 1477-7827 ;EISSN: 1477-7827 ;DOI: 10.1186/s12958-015-0055-7 ;PMID: 26060131Full text available |
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10 |
Material Type: Article
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Expanded noninvasive prenatal testing for fetal aneuploidy and copy number variations and parental willingness for invasive diagnosis in a cohort of 18,516 casesBMC medical genomics, 2021-04, Vol.14 (1), p.106-106, Article 106 [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: 1755-8794 ;EISSN: 1755-8794 ;DOI: 10.1186/s12920-021-00955-6 ;PMID: 33853619Full text available |
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11 |
Material Type: Article
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Evaluation of the clinical utility of extended non-invasive prenatal testing in the detection of chromosomal aneuploidy and microdeletion/microduplicationEuropean journal of medical research, 2023-08, Vol.28 (1), p.1-304, Article 304 [Peer Reviewed Journal]COPYRIGHT 2023 BioMed Central Ltd. ;2023. 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. ;BioMed Central Ltd., part of Springer Nature 2023 ;ISSN: 2047-783X ;ISSN: 0949-2321 ;EISSN: 2047-783X ;DOI: 10.1186/s40001-023-01285-2 ;PMID: 37644576Full text available |
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12 |
Material Type: Article
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Survival analysis and obstetric outcomes in patients with early stage ovarian cancer undergoing fertility-sparing surgeryJournal of ovarian research, 2022-12, Vol.15 (1), p.135-135, Article 135 [Peer Reviewed Journal]2022. The Author(s). ;COPYRIGHT 2022 BioMed Central Ltd. ;The Author(s) 2022 ;ISSN: 1757-2215 ;EISSN: 1757-2215 ;DOI: 10.1186/s13048-022-01082-1 ;PMID: 36564811Full text available |
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13 |
Material Type: Article
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Clinical application of noninvasive prenatal testing in the detection of fetal chromosomal diseasesMolecular cytogenetics, 2021-06, Vol.14 (1), p.1-31, Article 31 [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/s13039-021-00550-5 ;PMID: 34127051Full text available |
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14 |
Material Type: Article
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Non-invasive prenatal testing of fetal chromosomal aneuploidies: validation and clinical performance of the veracity testMolecular cytogenetics, 2019-07, Vol.12 (1), p.34-34, Article 34 [Peer Reviewed Journal]COPYRIGHT 2019 BioMed Central Ltd. ;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: 1755-8166 ;EISSN: 1755-8166 ;DOI: 10.1186/s13039-019-0446-0 ;PMID: 31338126Full text available |
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15 |
Material Type: Article
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Noninvasive prenatal detection of fetal sex chromosome abnormalities using the semiconductor sequencing platform (SSP) in Southern ChinaJournal of assisted reproduction and genetics, 2021-03, Vol.38 (3), p.727-734 [Peer Reviewed Journal]The Author(s) 2021 ;The Author(s) 2021. 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: 1058-0468 ;EISSN: 1573-7330 ;DOI: 10.1007/s10815-020-02056-2 ;PMID: 33564935Full text available |
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16 |
Material Type: Article
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The correlation between maternal age and fetal sex chromosome aneuploidies: a 8-year single institution experience in ChinaMolecular cytogenetics, 2021-05, Vol.14 (1), p.25-25, Article 25 [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/s13039-021-00545-2 ;PMID: 33971935Full text available |
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17 |
Material Type: Article
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Maternal XX/X chromosome mosaicism in donor oocyte in vitro fertilization (IVF)Middle East Fertility Society journal, 2012-06, Vol.17 (2), p.129-133 [Peer Reviewed Journal]2012 ;ISSN: 1110-5690 ;DOI: 10.1016/j.mefs.2012.03.001Full text available |
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18 |
Material Type: Article
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Cell-free DNA screening for sex chromosome aneuploidies by non-invasive prenatal testing in maternal plasmaMolecular cytogenetics, 2020-03, Vol.13 (1), p.10-10, Article 10 [Peer Reviewed Journal]The Author(s). 2020. ;COPYRIGHT 2020 BioMed Central Ltd. ;2020. 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). 2020 ;ISSN: 1755-8166 ;EISSN: 1755-8166 ;DOI: 10.1186/s13039-020-0478-5 ;PMID: 32190123Full text available |
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19 |
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 |
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20 |
Material Type: Article
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Epigenetics in Turner syndromeClinical epigenetics, 2018-04, Vol.10 (1), p.45-45, Article 45 [Peer Reviewed Journal]COPYRIGHT 2018 BioMed Central Ltd. ;The Author(s). 2018 ;ISSN: 1868-7075 ;EISSN: 1868-7083 ;DOI: 10.1186/s13148-018-0477-0 ;PMID: 29636833Full text available |