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subject: Patients

Result Number	Material Type	Record Details and Options
1	Material Type: Article	Gene therapy comes of age Science (American Association for the Advancement of Science), 2018-01, Vol.359 (6372) [Peer Reviewed Journal] Copyright © 2018 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works. ;Copyright © 2018 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works ;ISSN: 0036-8075 ;EISSN: 1095-9203 ;DOI: 10.1126/science.aan4672 ;PMID: 29326244 Digital Resources/Online E-Resources Services Details Recommendations Reviews Times Cited Citations Cited by
2	Material Type: Article	De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies Science (American Association for the Advancement of Science), 2015-12, Vol.350 (6265), p.1262-1266 [Peer Reviewed Journal] Copyright © 2015 American Association for the Advancement of Science ;Copyright © 2015, American Association for the Advancement of Science. ;Copyright © 2015, American Association for the Advancement of Science ;ISSN: 0036-8075 ;EISSN: 1095-9203 ;DOI: 10.1126/science.aac9396 ;PMID: 26785492 ;CODEN: SCIEAS Digital Resources/Online E-Resources Services Details Recommendations Reviews Times Cited Citations Cited by
3	Material Type: Article	Percutaneous Closure of the Patent Ductus Arteriosus in Infants ≤2 kg: IMPACT Registry insights Pediatrics (Evanston), 2023-09, Vol.152 (3), p.1 [Peer Reviewed Journal] Copyright © 2023 by the American Academy of Pediatrics. ;Copyright American Academy of Pediatrics Sep 2023 ;ISSN: 0031-4005 ;EISSN: 1098-4275 ;DOI: 10.1542/peds.2023-061460 ;PMID: 37529882 Digital Resources/Online E-Resources Services Details Recommendations Reviews Times Cited Citations Cited by
4	Material Type: Article	Functional variants in the sucrase–isomaltase gene associate with increased risk of irritable bowel syndrome Gut, 2018-02, Vol.67 (2), p.263-270 [Peer Reviewed Journal] Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing ;Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/. ;Copyright: 2016 Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing ;Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/ 2016 ;ISSN: 0017-5749 ;ISSN: 1468-3288 ;EISSN: 1468-3288 ;DOI: 10.1136/gutjnl-2016-312456 ;PMID: 27872184 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
5	Material Type: Article	16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations Journal of medical genetics, 2020-05, Vol.57 (5), p.301-307 [Peer Reviewed Journal] Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ. ;2020 Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ. ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2018-105389 ;PMID: 30287593 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
6	Material Type: Article	Update and audit of the St George’s classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis Journal of medical genetics, 2020-10, Vol.57 (10), p.653-659 [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. ;Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY. Published by BMJ. 2020 ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2019-106084 ;PMID: 32409509 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
7	Material Type: Article	Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita Journal 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: 33820833 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
8	Material Type: Article	Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex Journal of medical genetics, 2023-01, Vol.60 (1), p.48-56 [Peer Reviewed Journal] Author(s) (or their employer(s)) 2023. 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)) 2021. 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. ;2023 Author(s) (or their employer(s)) 2023. 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)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. 2023 ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2021-108064 ;PMID: 34740919 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
9	Material Type: Article	Factors Associated With Attendance for Cardiac Neurodevelopmental Evaluation Pediatrics (Evanston), 2023-09, Vol.152 (3), p.1 [Peer Reviewed Journal] Copyright © 2023 by the American Academy of Pediatrics. ;Copyright American Academy of Pediatrics Sep 2023 ;ISSN: 0031-4005 ;EISSN: 1098-4275 ;DOI: 10.1542/peds.2022-060995 ;PMID: 37593818 Digital Resources/Online E-Resources Services Details Recommendations Reviews Times Cited Citations Cited by
10	Material Type: Article	To progress or not to progress: new insights into the evolution of pleuropulmonary blastomas come from studying lung cysts in adolescents and adults with DICER1-related tumour predisposition Thorax, 2024-03, p.thorax-2024-221459 [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: 0040-6376 ;EISSN: 1468-3296 ;DOI: 10.1136/thorax-2024-221459 ;PMID: 38548329 Digital Resources/Online E-Resources Services Details Recommendations Reviews Times Cited Citations Cited by
11	Material Type: Article	Adrenal insufficiency Journal 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: 35534201 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
12	Material Type: Article	Ribosomal Protein SA Haploinsufficiency in Humans with Isolated Congenital Asplenia Science (American Association for the Advancement of Science), 2013-05, Vol.340 (6135), p.976-978 [Peer Reviewed Journal] Copyright © 2013 American Association for the Advancement of Science ;Copyright © 2013, American Association for the Advancement of Science ;ISSN: 0036-8075 ;ISSN: 1095-9203 ;EISSN: 1095-9203 ;DOI: 10.1126/science.1234864 ;PMID: 23579497 ;CODEN: SCIEAS Digital Resources/Online E-Resources View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
13	Material Type: Article	Genetic obesity: next-generation sequencing results of 1230 patients with obesity Journal of medical genetics, 2018-09, Vol.55 (9), p.578-586 [Peer Reviewed Journal] Author(s) (or their employer(s)) 2018. No commercial re-use. See rights and permissions. Published by BMJ. ;2018 Author(s) (or their employer(s)) 2018. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2018-105315 ;PMID: 29970488 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
14	Material Type: Article	Thrombotic microangiopathies: a general approach to diagnosis and management Canadian Medical Association journal (CMAJ), 2017-01, Vol.189 (4), p.E153-E159 [Peer Reviewed Journal] COPYRIGHT 2017 Joule Inc. ;Copyright 8872147 Canada Inc. Jan 30, 2017 ;2017 Joule Inc. or its licensors 2017 ;ISSN: 0820-3946 ;EISSN: 1488-2329 ;DOI: 10.1503/cmaj.160142 ;PMID: 27754896 ;CODEN: CMAJAX Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
15	Material Type: Article	Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS) Journal of medical genetics, 2021-01, Vol.58 (1), p.41-47 [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-2019-106823 ;PMID: 32381727 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
16	Material Type: Article	Managing drug-induced QT prolongation in clinical practice Postgraduate medical journal, 2021-07, Vol.97 (1149), p.452-458 [Peer Reviewed Journal] 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. ;2021 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. 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)) 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. 2021 ;ISSN: 0032-5473 ;EISSN: 1469-0756 ;DOI: 10.1136/postgradmedj-2020-138661 ;PMID: 33122341 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
17	Material Type: Article	Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14) Journal of medical genetics, 2022-09, Vol.59 (9), p.865-877 [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: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2020-107623 ;PMID: 34815299 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
18	Material Type: Article	Discerning clinicopathological features of congenital neutropenia syndromes: an approach to diagnostically challenging differential diagnoses Journal of clinical pathology, 2024-04, p.jcp-2022-208686 [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: 0021-9746 ;EISSN: 1472-4146 ;DOI: 10.1136/jcp-2022-208686 ;PMID: 38589208 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
19	Material Type: Article	Homozygous C-terminal loss-of-function NaV1.4 variant in a patient with congenital myasthenic syndrome Journal of neurology, neurosurgery and psychiatry, 2020-08, Vol.91 (8), p.898-900 [Peer Reviewed Journal] Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ. ;2020 Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ. ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0022-3050 ;EISSN: 1468-330X ;DOI: 10.1136/jnnp-2020-323173 ;PMID: 32487525 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
20	Material Type: Article	Mental Health Disorders in Children With Congenital Heart Disease Pediatrics (Evanston), 2021-02, Vol.147 (2), p.1 [Peer Reviewed Journal] Copyright © 2021 by the American Academy of Pediatrics. ;COPYRIGHT 2021 American Academy of Pediatrics ;Copyright American Academy of Pediatrics Feb 1, 2021 ;Copyright © 2021 by the American Academy of Pediatrics 2021 ;ISSN: 0031-4005 ;EISSN: 1098-4275 ;DOI: 10.1542/peds.2020-1693 ;PMID: 33397689 Digital Resources/Online E-Resources Services Details Recommendations Reviews Times Cited Citations Cited by

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Results 1 - 20 of 291 for All Library Resources

Copyright © 2023 by the American Academy of Pediatrics. ;Copyright American Academy of Pediatrics Sep 2023 ;ISSN: 0031-4005 ;EISSN: 1098-4275 ;DOI: 10.1542/peds.2023-061460 ;PMID: 37529882

Copyright © 2023 by the American Academy of Pediatrics. ;Copyright American Academy of Pediatrics Sep 2023 ;ISSN: 0031-4005 ;EISSN: 1098-4275 ;DOI: 10.1542/peds.2022-060995 ;PMID: 37593818

Copyright © 2013 American Association for the Advancement of Science ;Copyright © 2013, American Association for the Advancement of Science ;ISSN: 0036-8075 ;ISSN: 1095-9203 ;EISSN: 1095-9203 ;DOI: 10.1126/science.1234864 ;PMID: 23579497 ;CODEN: SCIEAS

COPYRIGHT 2017 Joule Inc. ;Copyright 8872147 Canada Inc. Jan 30, 2017 ;2017 Joule Inc. or its licensors 2017 ;ISSN: 0820-3946 ;EISSN: 1488-2329 ;DOI: 10.1503/cmaj.160142 ;PMID: 27754896 ;CODEN: CMAJAX

Copyright © 2021 by the American Academy of Pediatrics. ;COPYRIGHT 2021 American Academy of Pediatrics ;Copyright American Academy of Pediatrics Feb 1, 2021 ;Copyright © 2021 by the American Academy of Pediatrics 2021 ;ISSN: 0031-4005 ;EISSN: 1098-4275 ;DOI: 10.1542/peds.2020-1693 ;PMID: 33397689

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