Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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21 |
Material Type: Article
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Organ Abnormalities Caused by Turner SyndromeCells (Basel, Switzerland), 2023-05, Vol.12 (10), p.1365 [Peer Reviewed Journal]COPYRIGHT 2023 MDPI AG ;2023 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. ;2023 by the authors. 2023 ;ISSN: 2073-4409 ;EISSN: 2073-4409 ;DOI: 10.3390/cells12101365 ;PMID: 37408200Full text available |
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22 |
Material Type: Article
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The difference between karyotype analysis and chromosome microarray for mosaicism of aneuploid chromosomes in prenatal diagnosisJournal of clinical laboratory analysis, 2020-12, Vol.34 (12), p.e23514-n/a [Peer Reviewed Journal]2020 The Authors. Published by Wiley Periodicals LLC ;2020 The Authors. Journal of Clinical Laboratory Analysis 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: 0887-8013 ;EISSN: 1098-2825 ;DOI: 10.1002/jcla.23514 ;PMID: 32864771Full text available |
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23 |
Material Type: Article
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Aplastic Anemia in Triple X SyndromeChildren (Basel), 2023-01, Vol.10 (1), p.100 [Peer Reviewed Journal]2023 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. ;2023 by the authors. 2023 ;ISSN: 2227-9067 ;EISSN: 2227-9067 ;DOI: 10.3390/children10010100 ;PMID: 36670650Full text available |
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24 |
Material Type: Article
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Analysis of copy number variation by sequencing in fetuses with nuchal translucency thickeningJournal of clinical laboratory analysis, 2020-08, Vol.34 (8), p.e23347-n/a [Peer Reviewed Journal]2020 The Authors. Published by Wiley Periodicals, Inc. ;2020 The Authors. Journal of Clinical Laboratory Analysis Published by Wiley Periodicals, Inc. ;2020. 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: 0887-8013 ;EISSN: 1098-2825 ;DOI: 10.1002/jcla.23347 ;PMID: 32342531Full text available |
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25 |
Material Type: Article
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Understanding the interaction between cytomegalovirus and tuberculosis in children: The way forwardPLoS pathogens, 2021-12, Vol.17 (12), p.e1010061-e1010061 [Peer Reviewed Journal]COPYRIGHT 2021 Public Library of Science ;2021 Olbrich 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. ;2021 Olbrich et al 2021 Olbrich et al ;ISSN: 1553-7374 ;ISSN: 1553-7366 ;EISSN: 1553-7374 ;DOI: 10.1371/journal.ppat.1010061 ;PMID: 34882748Full text available |
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26 |
Material Type: Article
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HILIC-UPLC-MS for high throughput and isomeric N-glycan separation and characterization in Congenital Disorders Glycosylation and human diseasesGlycoconjugate journal, 2021-04, Vol.38 (2), p.201-211 [Peer Reviewed Journal]Springer Science+Business Media, LLC, part of Springer Nature 2020 ;COPYRIGHT 2021 Springer ;Springer Science+Business Media, LLC, part of Springer Nature 2020. ;ISSN: 0282-0080 ;EISSN: 1573-4986 ;DOI: 10.1007/s10719-020-09947-7 ;PMID: 32915358Full text available |
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27 |
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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28 |
Material Type: Article
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The Genomic Architecture of Bladder Exstrophy Epispadias ComplexGenes, 2021-07, Vol.12 (8), p.1149 [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/genes12081149 ;PMID: 34440323Full text available |
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29 |
Material Type: Article
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Primary Amenorrhea Due to Anatomical Abnormalities of the Reproductive Tract: Molecular InsightInternational journal of molecular sciences, 2021-10, Vol.22 (21), p.11495 [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: 1422-0067 ;ISSN: 1661-6596 ;EISSN: 1422-0067 ;DOI: 10.3390/ijms222111495 ;PMID: 34768925Full text available |
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30 |
Material Type: Article
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Multi‐institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphismsMolecular genetics & genomic medicine, 2020-02, Vol.8 (2), p.e1087-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. ;2020. This work is published under http://creativecommons.org/licenses/by-nc/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/mgg3.1087 ;PMID: 31830383Full text available |
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31 |
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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32 |
Material Type: Article
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Short stature and SHOX (Short stature homeobox) variants-efficacy of screening using various strategiesPeerJ (San Francisco, CA), 2020-11, Vol.8, p.e10236-e10236, Article e10236 [Peer Reviewed Journal]2020 Capkova et al. ;COPYRIGHT 2020 COPYRIGHT 2012-2015 PeerJ, Inc / Public user content licensed CC-BY 4.0 unless otherwise specified. Content is available for free at https://peerj.com ;COPYRIGHT 2020 PeerJ. Ltd. ;2020 Capkova et al. 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, reproduction and adaptation in any medium and for any purpose provided that it is properly attributed. For attribution, the original author(s), title, publication source (PeerJ) and either DOI or URL of the article must be cited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2020 Capkova et al. 2020 Capkova et al. ;ISSN: 2167-8359 ;EISSN: 2167-8359 ;DOI: 10.7717/peerj.10236 ;PMID: 33240610Full text available |
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33 |
Material Type: Article
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Genetic counseling prior to assisted reproductive technologyReproductive medicine and biology, 2021-04, Vol.20 (2), p.133-143 [Peer Reviewed Journal]2020 The Authors. by John Wiley & Sons Australia, Ltd on behalf of Japan Society for Reproductive Medicine. ;2020 The Authors. Reproductive Medicine and Biology published by John Wiley & Sons Australia, Ltd on behalf of Japan Society for Reproductive Medicine. ;COPYRIGHT 2021 John Wiley & Sons, Inc. ;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: 1445-5781 ;EISSN: 1447-0578 ;DOI: 10.1002/rmb2.12361 ;PMID: 33850446Full text available |
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34 |
Material Type: Article
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SF3B1 mutant MDS-initiating cells may arise from the haematopoietic stem cell compartmentNature communications, 2015-12, Vol.6 (1), p.10004, Article 10004 [Peer Reviewed Journal]Copyright Nature Publishing Group Dec 2015 ;Copyright © 2015, Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved. 2015 Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved. ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/ncomms10004 ;PMID: 26643973Full text available |
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35 |
Material Type: Article
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Serial Magnetic Resonance Imaging for Aortic Dilation in Tetralogy of Fallot With Pulmonary StenosisThe American journal of cardiology, 2023-03, Vol.191, p.92-100 [Peer Reviewed Journal]2022 Elsevier Inc. ;Copyright © 2022 Elsevier Inc. All rights reserved. ;2022. Elsevier Inc. ;ISSN: 0002-9149 ;EISSN: 1879-1913 ;DOI: 10.1016/j.amjcard.2022.12.015 ;PMID: 36669383Full text available |
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36 |
Material Type: Article
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Implications of failure to achieve a result from prenatal maternal serum cell-free DNA testing: a historical cohort studyBJOG : an international journal of obstetrics and gynaecology, 2018-06, Vol.125 (7), p.848 [Peer Reviewed Journal]2017 Royal College of Obstetricians and Gynaecologists. ;EISSN: 1471-0528 ;DOI: 10.1111/1471-0528.15006 ;PMID: 29090507Digital Resources/Online E-Resources |
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37 |
Material Type: Article
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Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum DisordersAmerican family physician, 2021-04, Vol.103 (8), p.481-492 [Peer Reviewed Journal]COPYRIGHT 2021 American Academy of Family Physicians ;Copyright American Academy of Family Physicians Apr 15, 2021 ;ISSN: 0002-838X ;EISSN: 1532-0650 ;PMID: 33856167Full text available |
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38 |
Material Type: Article
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Long-term neurodevelopment in children with resected congenital lung abnormalitiesEuropean journal of pediatrics, 2023-09, Vol.182 (9), p.3845-3855 [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: 1432-1076 ;ISSN: 0340-6199 ;EISSN: 1432-1076 ;DOI: 10.1007/s00431-023-05054-5 ;PMID: 37326640Digital Resources/Online E-Resources |
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39 |
Material Type: Article
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Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart DiseaseGenes, 2022-06, Vol.13 (7), p.1172 [Peer Reviewed Journal]COPYRIGHT 2022 MDPI AG ;2022 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. ;2022 by the authors. 2022 ;ISSN: 2073-4425 ;EISSN: 2073-4425 ;DOI: 10.3390/genes13071172 ;PMID: 35885957Full text available |
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40 |
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 |