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| 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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Turner's syndrome mosaicism in girls with neurodevelopmental disorders: a cohort study and hypothesisMolecular cytogenetics, 2021-02, Vol.14 (1), p.9-9, Article 9 [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/s13039-021-00529-2 ;PMID: 33573679Full text available |
| 2 |
Material Type: Article
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Spectrum of external genital anomalies in disorders of Sex Development at Children Hospital & Institute of Child Health, Lahore, PakistanPakistan journal of medical sciences, 2021-02, Vol.37 (1), p.244-249 [Peer Reviewed Journal]Copyright: © Pakistan Journal of Medical Sciences. ;COPYRIGHT 2021 Knowledge Bylanes ;COPYRIGHT 2021 Knowledge Bylanes ;(c)2021 Pakistan Journal of Medical Sciences ;Copyright: © Pakistan Journal of Medical Sciences 2021 ;ISSN: 1682-024X ;EISSN: 1681-715X ;DOI: 10.12669/pjms.37.1.2991 ;PMID: 33437285Full text available |
| 3 |
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TIMP3 and TIMP1 are risk genes for bicuspid aortic valve and aortopathy in Turner syndromePLoS genetics, 2018-10, Vol.14 (10), p.e1007692-e1007692 [Peer Reviewed Journal]COPYRIGHT 2018 Public Library of Science ;2018 Corbitt 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. ;2018 Corbitt et al 2018 Corbitt et al ;ISSN: 1553-7404 ;ISSN: 1553-7390 ;EISSN: 1553-7404 ;DOI: 10.1371/journal.pgen.1007692 ;PMID: 30281655Full text available |
| 4 |
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Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in BrazilScientific reports, 2022-09, Vol.12 (1), p.15184-15184, Article 15184 [Peer Reviewed Journal]The Author(s) 2022. 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) 2022 ;ISSN: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-022-19274-6 ;PMID: 36071085Full text available |
| 5 |
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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 |
| 6 |
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 |
| 7 |
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 |
| 8 |
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 |
| 9 |
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 |
| 10 |
Material Type: Article
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Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome casesGenome medicine, 2019-05, Vol.11 (1), p.30-30, Article 30 [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: 1756-994X ;EISSN: 1756-994X ;DOI: 10.1186/s13073-019-0639-5 ;PMID: 31101064Full text available |
| 11 |
Material Type: Article
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Gestational diabetes is associated with the risk of offspring’s congenital anomalies: a register-based cohort studyBMC pregnancy and childbirth, 2023-10, Vol.23 (1), p.1-708, Article 708 [Peer Reviewed Journal]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: 1471-2393 ;EISSN: 1471-2393 ;DOI: 10.1186/s12884-023-05996-6 ;PMID: 37789251Full text available |
| 12 |
Material Type: Article
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Chromosomal microarray analysis as a first-line test in pregnancies with a priori low risk for the detection of submicroscopic chromosomal abnormalitiesEuropean journal of human genetics : EJHG, 2013-07, Vol.21 (7), p.725-730 [Peer Reviewed Journal]Copyright Nature Publishing Group Jul 2013 ;Copyright © 2013 Macmillan Publishers Limited 2013 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2012.253 ;PMID: 23211699Full text available |
| 13 |
Material Type: Article
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Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutationEuropean journal of human genetics : EJHG, 2014-03, Vol.22 (3), p.344-349 [Peer Reviewed Journal]Copyright Nature Publishing Group Mar 2014 ;Copyright © 2014 Macmillan Publishers Limited 2014 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2013.162 ;PMID: 23942204Full text available |
| 14 |
Material Type: Article
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Pulmonary placental transmogrification: a difficult pattern in differential diagnosis of pulmonary hamartomas from a tertiary care hospital in TurkeyJournal of cardiothoracic surgery, 2023-04, Vol.18 (1), p.127-127, Article 127 [Peer Reviewed Journal]2023. The Author(s). ;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. ;The Author(s) 2023 ;ISSN: 1749-8090 ;EISSN: 1749-8090 ;DOI: 10.1186/s13019-023-02217-1 ;PMID: 37041644Full text available |
| 15 |
Material Type: Article
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Complex and segmental uniparental disomy updatedJournal of medical genetics, 2008-09, Vol.45 (9), p.545-556 [Peer Reviewed Journal]2008 BMJ Publishing Group Ltd ;2008 INIST-CNRS ;Copyright: 2008 2008 BMJ Publishing Group Ltd ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.2008.058016 ;PMID: 18524837 ;CODEN: JMDGAEFull text available |
| 16 |
Material Type: Article
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Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(c.1957-2A>C) Mutation in the GLI2 GeneJournal of clinical research in pediatric endocrinology, 2020-09, Vol.12 (3), p.319-328 [Peer Reviewed Journal]2020. This work is published under https://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. ;Copyright 2020 by Turkish Pediatric Endocrinology and Diabetes Society | The Journal of Clinical Research in Pediatric Endocrinology published by Galenos Publishing House. 2020 ;ISSN: 1308-5727 ;EISSN: 1308-5735 ;DOI: 10.4274/jcrpe.galenos.2019.2019.0142 ;PMID: 31782289Full text available |
| 17 |
Material Type: Article
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The clinical impact of chromosomal microarray on paediatric care in Hong KongPloS one, 2014-10, Vol.9 (10), p.e109629-e109629 [Peer Reviewed Journal]COPYRIGHT 2014 Public Library of Science ;COPYRIGHT 2014 Public Library of Science ;2014 Tao 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. ;2014 Tao et al 2014 Tao et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0109629 ;PMID: 25333781Full text available |
| 18 |
Material Type: Article
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A survey of protein interaction data and multigenic inherited disordersBMC bioinformatics, 2013-02, Vol.14 (1), p.47-47, Article 47 [Peer Reviewed Journal]COPYRIGHT 2013 BioMed Central Ltd. ;2013 Mora et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. ;info:eu-repo/semantics/openAccess ;Copyright ©2013 Mora et al; licensee BioMed Central Ltd. 2013 Mora et al; licensee BioMed Central Ltd. ;ISSN: 1471-2105 ;EISSN: 1471-2105 ;DOI: 10.1186/1471-2105-14-47 ;PMID: 23398688Full text available |
| 19 |
Material Type: Article
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15q23 Gain in a Neonate with a Giant Omphalocele and Multiple Co-Occurring AnomaliesCase reports in pediatrics, 2018-01, Vol.2018, p.8702568-5 [Peer Reviewed Journal]Copyright © 2018 Hui-Fang Zhou et al. ;Copyright © 2018 Hui-Fang Zhou et al. This is an open access article distributed under the Creative Commons Attribution License (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. http://creativecommons.org/licenses/by/4.0 ;Copyright © 2018 Hui-Fang Zhou et al. 2018 ;ISSN: 2090-6803 ;EISSN: 2090-6811 ;DOI: 10.1155/2018/8702568 ;PMID: 30538881Full text available |
| 20 |
Material Type: Article
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Sirenomelia type VI (sympus apus) in one of dizygotic twins at Chiang Mai University HospitalBMJ case reports, 2015-05, Vol.2015 (may14 1), p.bcr2014208501-bcr2014208501 [Peer Reviewed Journal]2015 BMJ Publishing Group Ltd ;2015 BMJ Publishing Group Ltd. ;Copyright: 2015 2015 BMJ Publishing Group Ltd ;2015 BMJ Publishing Group Ltd 2015 ;ISSN: 1757-790X ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2014-208501 ;PMID: 25976191Full text available |
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