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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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Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysisOrphanet journal of rare diseases, 2020-06, Vol.15 (1), p.1-141, Article 141 [Peer Reviewed Journal]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. ;Attribution ;The Author(s) 2020 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-020-01430-8 ;PMID: 32503598Full text available |
| 2 |
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The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK PathwayEndocrine reviews, 2018-10, Vol.39 (5), p.676-700 [Peer Reviewed Journal]Copyright © 2018 Endocrine Society 2018 ;Copyright © Oxford University Press 2015 ;COPYRIGHT 2018 Oxford University Press ;Copyright © 2018 Endocrine Society ;ISSN: 0163-769X ;EISSN: 1945-7189 ;DOI: 10.1210/er.2017-00232 ;PMID: 29924299Full text available |
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ISSVA Classification of Vascular Anomalies and Molecular BiologyInternational journal of molecular sciences, 2022-02, Vol.23 (4), p.2358 [Peer Reviewed Journal]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: 1422-0067 ;ISSN: 1661-6596 ;EISSN: 1422-0067 ;DOI: 10.3390/ijms23042358 ;PMID: 35216474Full text available |
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Application of prime editing to the correction of mutations and phenotypes in adult mice with liver and eye diseasesNature biomedical engineering, 2022-02, Vol.6 (2), p.181-194 [Peer Reviewed Journal]2021. The Author(s), under exclusive licence to Springer Nature Limited. ;The Author(s), under exclusive licence to Springer Nature Limited 2021. ;ISSN: 2157-846X ;EISSN: 2157-846X ;DOI: 10.1038/s41551-021-00788-9 ;PMID: 34446856Full text available |
| 5 |
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Gene therapy and genome surgery in the retinaThe Journal of clinical investigation, 2018-06, Vol.128 (6), p.2177-2188 [Peer Reviewed Journal]COPYRIGHT 2018 American Society for Clinical Investigation ;COPYRIGHT 2018 American Society for Clinical Investigation ;Copyright American Society for Clinical Investigation Jun 2018 ;Copyright © 2018, American Society for Clinical Investigation 2018 American Society for Clinical Investigation ;ISSN: 0021-9738 ;EISSN: 1558-8238 ;DOI: 10.1172/JCI120429 ;PMID: 29856367Full text available |
| 6 |
Material Type: Article
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Developmental genetics of vertebrate glial-cell specificationNature (London), 2010-11, Vol.468 (7321), p.214-222 [Peer Reviewed Journal]2015 INIST-CNRS ;COPYRIGHT 2010 Nature Publishing Group ;COPYRIGHT 2010 Nature Publishing Group ;Copyright Nature Publishing Group Nov 11, 2010 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/nature09611 ;PMID: 21068830 ;CODEN: NATUASFull text available |
| 7 |
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Inherited cataracts: molecular genetics, clinical features, disease mechanisms and novel therapeutic approachesBritish journal of ophthalmology, 2020-10, Vol.104 (10), p.1331-1337 [Peer Reviewed Journal]Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY. Published by BMJ. ;2020 Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY. Published by BMJ. This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: 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. ;ISSN: 0007-1161 ;EISSN: 1468-2079 ;DOI: 10.1136/bjophthalmol-2019-315282 ;PMID: 32217542Full text available |
| 8 |
Material Type: Article
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Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenitaJournal of medical genetics, 2022-06, Vol.59 (6), p.559-567 [Peer Reviewed Journal]Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. ;Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. ;2022 Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/ This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ . Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Distributed under a Creative Commons Attribution 4.0 International License ;Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. 2022 ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2020-107595 ;PMID: 33820833Full text available |
| 9 |
Material Type: Article
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Skin biopsy and small fibre neuropathies: facts and thoughts 30 years laterJournal of neurology, neurosurgery and psychiatry, 2022-09, Vol.93 (9), p.915-918 [Peer Reviewed Journal]Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. ;2022 Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/ This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ . Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. 2022 ;ISSN: 0022-3050 ;EISSN: 1468-330X ;DOI: 10.1136/jnnp-2021-327742 ;PMID: 35246491Full text available |
| 10 |
Material Type: Article
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A somatic activating NRAS variant associated with kaposiform lymphangiomatosisGenetics in medicine, 2019-07, Vol.21 (7), p.1517-1524 [Peer Reviewed Journal]2019 The Author(s) ;Copyright Nature Publishing Group Jul 2019 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-018-0390-0 ;PMID: 30542204Full text available |
| 11 |
Material Type: Article
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Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomicsJournal of medical genetics, 2021-09, Vol.58 (9), p.609-618 [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: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2020-106901 ;PMID: 33060286Full text available |
| 12 |
Material Type: Article
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Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN diseaseThe Journal of clinical investigation, 2020-01, Vol.130 (1), p.507-522 [Peer Reviewed Journal]COPYRIGHT 2020 American Society for Clinical Investigation ;COPYRIGHT 2020 American Society for Clinical Investigation ;Copyright American Society for Clinical Investigation Jan 2020 ;2020 American Society for Clinical Investigation 2020 American Society for Clinical Investigation ;ISSN: 0021-9738 ;EISSN: 1558-8238 ;DOI: 10.1172/JCI131116 ;PMID: 31714901Full text available |
| 13 |
Material Type: Article
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Lymphatic malformations: mechanistic insights and evolving therapeutic frontiersThe Journal of clinical investigation, 2024-03, Vol.134 (6), p.1-9 [Peer Reviewed Journal]Copyright American Society for Clinical Investigation Mar 2024 ;ISSN: 0021-9738 ;ISSN: 1558-8238 ;EISSN: 1558-8238 ;DOI: 10.1172/JCI172844Full text available |
| 14 |
Material Type: Article
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A mutation-independent approach for muscular dystrophy via upregulation of a modifier geneNature (London), 2019-08, Vol.572 (7767), p.125-130 [Peer Reviewed Journal]COPYRIGHT 2019 Nature Publishing Group ;Copyright Nature Publishing Group Aug 1, 2019 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/s41586-019-1430-x ;PMID: 31341277Full text available |
| 15 |
Material Type: Article
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Mechanism of disease and therapeutic rescue of Dok7 congenital myastheniaNature (London), 2021-07, Vol.595 (7867), p.404-408 [Peer Reviewed Journal]COPYRIGHT 2021 Nature Publishing Group ;Copyright Nature Publishing Group Jul 15, 2021 ;The Author(s) 2021 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/s41586-021-03672-3 ;PMID: 34163073Full text available |
| 16 |
Material Type: Article
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Adrenal insufficiencyJournal of clinical pathology, 2022-07, Vol.75 (7), p.435-442 [Peer Reviewed Journal]Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ. ;2022 Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 0021-9746 ;EISSN: 1472-4146 ;DOI: 10.1136/jclinpath-2021-207895 ;PMID: 35534201Full text available |
| 17 |
Material Type: Article
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Systematic reanalysis of copy number losses of uncertain clinical significanceJournal of medical genetics, 2024-04, p.jmg-2023-109559 [Peer Reviewed Journal]Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;2024 Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg-2023-109559 ;PMID: 38604752Full text available |
| 18 |
Material Type: Article
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Guidelines for diagnosis and management of congenital central hypoventilation syndromeOrphanet journal of rare diseases, 2020-09, Vol.15 (1), p.252-252, Article 252 [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: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-020-01460-2 ;PMID: 32958024Full text available |
| 19 |
Material Type: Article
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Advances in the diagnosis of inherited neuromuscular diseases and implications for therapy developmentLancet neurology, 2020-06, Vol.19 (6), p.522-532 [Peer Reviewed Journal]2020 Elsevier Ltd ;Copyright © 2020 Elsevier Ltd. All rights reserved. ;2020. Elsevier Ltd ;ISSN: 1474-4422 ;EISSN: 1474-4465 ;DOI: 10.1016/S1474-4422(20)30028-4 ;PMID: 32470424Full text available |
| 20 |
Material Type: Article
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Endoplasmic reticulum-associated degradation is required for nephrin maturation and kidney glomerular filtration functionThe Journal of clinical investigation, 2021-04, Vol.131 (7), p.1-16 [Peer Reviewed Journal]COPYRIGHT 2021 American Society for Clinical Investigation ;COPYRIGHT 2021 American Society for Clinical Investigation ;Copyright American Society for Clinical Investigation Apr 2021 ;2021 American Society for Clinical Investigation 2021 American Society for Clinical Investigation ;ISSN: 0021-9738 ;EISSN: 1558-8238 ;DOI: 10.1172/jci143988 ;PMID: 33591954Full text available |
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