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| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
|---|---|---|---|
| 1 |
Material Type: Article
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Diagnostic yield of the chromosomal microarray analysis in turkish patients with unexplained development delay/ıntellectual disability(ID), autism spectrum disorders and/or multiple congenital anomalies and new clinical findingsMolecular biology reports, 2024-12, Vol.51 (1), p.577-577 [Peer Reviewed Journal]The Author(s), under exclusive licence to Springer Nature B.V. 2024. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law. ;2024. The Author(s), under exclusive licence to Springer Nature B.V. ;ISSN: 0301-4851 ;EISSN: 1573-4978 ;DOI: 10.1007/s11033-024-09545-y ;PMID: 38664339Digital Resources/Online E-Resources |
| 2 |
Material Type: Article
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Maternal antenatal mental health and its associations with perinatal outcomes and the use of healthcare services in children from the NINFEA birth cohort studyEuropean journal of pediatrics, 2024-06, Vol.183 (6), p.2769-2781 [Peer Reviewed Journal]The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2024. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law. ;2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature. ;ISSN: 0340-6199 ;EISSN: 1432-1076 ;DOI: 10.1007/s00431-024-05525-3 ;PMID: 38564067Digital Resources/Online E-Resources |
| 3 |
Material Type: Article
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Adult idiopathic bilateral occlusion of foramen of Monro: Systematic review with illustrative caseClinical neurology and neurosurgery, 2024-06, Vol.241, p.108279-108279, Article 108279 [Peer Reviewed Journal]2024 Elsevier B.V. ;Copyright © 2024 Elsevier B.V. All rights reserved. ;2024. Elsevier B.V. ;ISSN: 0303-8467 ;EISSN: 1872-6968 ;DOI: 10.1016/j.clineuro.2024.108279 ;PMID: 38640777Digital Resources/Online E-Resources |
| 4 |
Material Type: Article
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Heart disease in pregnancy and risk of pre-eclampsia: a Swedish register-based studyOpen heart, 2024-05, Vol.11 (1), p.e002728 [Peer Reviewed Journal]Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. ;2024 Author(s) (or their employer(s)) 2024. 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. ;ISSN: 2053-3624 ;ISSN: 2398-595X ;EISSN: 2053-3624 ;DOI: 10.1136/openhrt-2024-002728 ;PMID: 38782544Full text available |
| 5 |
Material Type: Article
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Previously undiagnosed genetic disease in adult patient with hepatic masses and reported history of congenital hyperinsulinismBMJ case reports, 2024-05, Vol.17 (5), p.e259355 [Peer Reviewed Journal]BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;2024 BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2023-259355 ;PMID: 38782444Digital Resources/Online E-Resources |
| 6 |
Material Type: Article
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CHD7 Disorder-Not CHARGE Syndrome-Presenting as Isolated Cochleovestibular DysfunctionGenes, 2024-05, Vol.15 (5), p.643 [Peer Reviewed Journal]2024 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. ;EISSN: 2073-4425 ;DOI: 10.3390/genes15050643 ;PMID: 38790272Full text available |
| 7 |
Material Type: Article
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A HGF Mutation in the Familial Case of Primary Lymphedema: A ReportInternational journal of molecular sciences, 2024-05, Vol.25 (10), p.5464 [Peer Reviewed Journal]2024 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. ;ISSN: 1661-6596 ;EISSN: 1422-0067 ;DOI: 10.3390/ijms25105464 ;PMID: 38791500Full text available |
| 8 |
Material Type: Article
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In Silico CRISPR-Cas-Mediated Base Editing Strategies for Early-Onset, Severe Cone-Rod Retinal Degeneration in Three Crumbs homolog 1 Patients, including the Novel Variant c.2833G>AGenes, 2024-05, Vol.15 (5), p.625 [Peer Reviewed Journal]2024 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. ;EISSN: 2073-4425 ;DOI: 10.3390/genes15050625 ;PMID: 38790254Full text available |
| 9 |
Material Type: Article
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The burden of psychological trauma and post-traumatic stress disorder among adults with congenital heart disease: PTSD in ACHDThe American journal of cardiology, 2024-05, Vol.219, p.9-16 [Peer Reviewed Journal]2024 ;Copyright © 2024. Published by Elsevier Inc. ;Copyright Elsevier Limited May 15, 2024 ;ISSN: 0002-9149 ;EISSN: 1879-1913 ;DOI: 10.1016/j.amjcard.2024.03.007 ;PMID: 38458583Digital Resources/Online E-Resources |
| 10 |
Material Type: Article
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Unilateral Toxoplasma retinochoroiditis with frosted branch angiitis: a multimodal imaging studyBMJ case reports, 2024-05, Vol.17 (5), p.e253286 [Peer Reviewed Journal]BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;2024 BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2022-253286 ;PMID: 38740445Digital Resources/Online E-Resources |
| 11 |
Material Type: Article
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Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial WeaknessInternational journal of environmental research and public health, 2024-05, Vol.21 (5), p.615 [Peer Reviewed Journal]2024 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. ;ISSN: 1661-7827 ;EISSN: 1660-4601 ;DOI: 10.3390/ijerph21050615 ;PMID: 38791829Full text available |
| 12 |
Material Type: Article
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Anaesthesia management of a patient with Bethlem Myopathy for elective tonsillectomy: a case reportBMC anesthesiology, 2024-05, Vol.24 (1), p.173-173 [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. ;ISSN: 1471-2253 ;EISSN: 1471-2253 ;DOI: 10.1186/s12871-024-02539-0 ;PMID: 38730355Full text available |
| 13 |
Material Type: Article
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Detection of a novel pathogenic variant in KCNH2 associated with long QT syndrome 2 using whole exome sequencingBMC medical genomics, 2024-05, Vol.17 (1), p.126-126 [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: 1755-8794 ;EISSN: 1755-8794 ;DOI: 10.1186/s12920-024-01900-z ;PMID: 38715010Full text available |
| 14 |
Material Type: Article
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Risk and time preferences in individuals with lifestyle-related and non-lifestyle-related cardiovascular diseases: a pilot studyBMJ open, 2024-05, Vol.14 (5), p.e080867-e080867 [Peer Reviewed Journal]Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. ;2024 Author(s) (or their employer(s)) 2024. 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)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. 2024 ;ISSN: 2044-6055 ;EISSN: 2044-6055 ;DOI: 10.1136/bmjopen-2023-080867 ;PMID: 38719330Full text available |
| 15 |
Material Type: Article
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Maternal and obstetric outcomes following the transfer of embryos warmed with fatty acid-supplemented solutionsBMC pregnancy and childbirth, 2024-05, Vol.24 (1), p.343-343 [Peer Reviewed Journal]2024. The Author(s). ;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. ;EISSN: 1471-2393 ;DOI: 10.1186/s12884-024-06546-4 ;PMID: 38704546Full text available |
| 16 |
Material Type: Article
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Medullary sponge kidney with IgA nephropathy: a case report and literature reviewBMC nephrology, 2024-05, Vol.25 (1), p.154-154 [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. ;ISSN: 1471-2369 ;EISSN: 1471-2369 ;DOI: 10.1186/s12882-024-03596-w ;PMID: 38702597Full text available |
| 17 |
Material Type: Article
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Recombinant ADAMTS13 in Congenital Thrombotic Thrombocytopenic PurpuraThe New England journal of medicine, 2024-05, Vol.390 (17), p.1584-1596 [Peer Reviewed Journal]Copyright © 2024 Massachusetts Medical Society. All rights reserved. ;Copyright © 2024 Massachusetts Medical Society. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa2314793 ;PMID: 38692292Full text available |
| 18 |
Material Type: Article
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Clinical Features and Treatment of Congenital Pyriform Sinus Fistula: Analysis of 12 CasesEar, Nose & Throat Journal, 2024-05, Vol.103 (5), p.319-323 [Peer Reviewed Journal]The Author(s) 2022 ;ISSN: 0145-5613 ;EISSN: 1942-7522 ;DOI: 10.1177/01455613221117004 ;PMID: 35968827Full text available |
| 19 |
Material Type: Article
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SIRT1 Serum Concentrations in Lipodystrophic SyndromesInternational journal of molecular sciences, 2024-05, Vol.25 (9), p.4785 [Peer Reviewed Journal]COPYRIGHT 2024 MDPI AG ;2024 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. ;ISSN: 1422-0067 ;ISSN: 1661-6596 ;EISSN: 1422-0067 ;DOI: 10.3390/ijms25094785 ;PMID: 38732001Full text available |
| 20 |
Material Type: Article
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Comprehensive Genetic Evaluation in Patients with Special Reference to Late-Onset Sensorineural Hearing LossGenes, 2024-05, Vol.15 (5), p.571 [Peer Reviewed Journal]COPYRIGHT 2024 MDPI AG ;2024 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. ;ISSN: 2073-4425 ;EISSN: 2073-4425 ;DOI: 10.3390/genes15050571 ;PMID: 38790200Full text available |
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