Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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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 |
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Material Type: Article
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Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndromeMolecular genetics and genomics : MGG, 2024-12, Vol.299 (1), p.44-44 [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. ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 1617-4615 ;EISSN: 1617-4623 ;DOI: 10.1007/s00438-024-02136-3 ;PMID: 38625590Digital Resources/Online E-Resources |
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Material Type: Article
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Fifteen-minute consultation: The prepubescent gender-diverse child: how to answer parents’ questionsArchives of disease in childhood. Education and practice edition, 2024-06, Vol.109 (3), p.106-111 [Peer Reviewed Journal]Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;2023 Author(s) (or their employer(s)) 2023. 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: 1743-0585 ;EISSN: 1743-0593 ;DOI: 10.1136/archdischild-2023-325709 ;PMID: 37468164Digital Resources/Online E-Resources |
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4 |
Material Type: Article
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Risk Factors and Outcomes Associated with Gaps in Care in Children with Congenital Heart DiseasePediatric cardiology, 2024-06, Vol.45 (5), p.976-985 [Peer Reviewed Journal]The Author(s) 2024 ;2024. The Author(s). ;ISSN: 0172-0643 ;EISSN: 1432-1971 ;DOI: 10.1007/s00246-024-03414-y ;PMID: 38485760Digital Resources/Online E-Resources |
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5 |
Material Type: Article
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A bird's eye view on the use of whole exome sequencing in rare congenital ophthalmic diseasesJournal of human genetics, 2024-06, Vol.69 (6), p.271-282 [Peer Reviewed Journal]2024. The Author(s). ;The Author(s) 2024. 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) 2024 ;ISSN: 1434-5161 ;EISSN: 1435-232X ;DOI: 10.1038/s10038-024-01237-6 ;PMID: 38459225Digital Resources/Online E-Resources |
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6 |
Material Type: Article
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Impact of Habitual Yogurt Intake in Mother–Child Dyads on Incidence of Childhood Otitis Media: The Japan Environment and Children’s Study (JECS)Probiotics and antimicrobial proteins, 2024-06, Vol.16 (3), p.884-893 [Peer Reviewed Journal]The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature 2023. 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. ;2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature. ;ISSN: 1867-1306 ;EISSN: 1867-1314 ;DOI: 10.1007/s12602-023-10086-2 ;PMID: 37195509Digital Resources/Online E-Resources |
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7 |
Material Type: Article
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Persistent Cutis Marmorata Telangiectatica Congenita Associated with Isolated Hemihypertrophy and Edema AttacksClinical pediatrics, 2024-06, Vol.63 (5), p.617-619 [Peer Reviewed Journal]The Author(s) 2023 ;ISSN: 0009-9228 ;EISSN: 1938-2707 ;DOI: 10.1177/00099228231187482 ;PMID: 37464812Digital Resources/Online E-Resources |
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8 |
Material Type: Article
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Disease severity impacts perceived quality of life in congenital diaphragmatic hernia: a prospective observational studyArchives of disease in childhood, 2024-06, Vol.109 (6), p.510-514 [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: 0003-9888 ;EISSN: 1468-2044 ;DOI: 10.1136/archdischild-2024-326906 ;PMID: 38589198Full text available |
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9 |
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 |
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10 |
Material Type: Article
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Disease activity and neonatal outcomes after exposure to natalizumab throughout pregnancyJournal of neurology, neurosurgery and psychiatry, 2024-06, Vol.95 (6), p.561-570 [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: 0022-3050 ;EISSN: 1468-330X ;DOI: 10.1136/jnnp-2023-332804 ;PMID: 38124108Digital Resources/Online E-Resources |
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11 |
Material Type: Article
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Goldenhar Syndrome: Quality-of-Life Analysis of 43 Consecutive PatientsThe Journal of craniofacial surgery, 2024-06, Vol.35 (4), p.1170 [Peer Reviewed Journal]Copyright © 2024 by Mutaz B. Habal, MD. ;EISSN: 1536-3732 ;DOI: 10.1097/SCS.0000000000010057 ;PMID: 38385678Digital Resources/Online E-Resources |
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12 |
Material Type: Article
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CPAK classification cannot be used to determine segmental coronal extra‐articular knee deformityKnee surgery, sports traumatology, arthroscopy : official journal of the ESSKA, 2024-06, Vol.32 (6), p.1557-1570 [Peer Reviewed Journal]2024 European Society of Sports Traumatology, Knee Surgery and Arthroscopy. ;ISSN: 0942-2056 ;EISSN: 1433-7347 ;DOI: 10.1002/ksa.12168 ;PMID: 38643399Digital Resources/Online E-Resources |
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13 |
Material Type: Article
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Pregnancy and cardiac maternal outcomes in women with inherited cardiomyopathy: interest of the CARPREG II risk scoreESC Heart Failure, 2024-06, Vol.11 (3), p.1506-1514 [Peer Reviewed Journal]2024 The Authors. ESC Heart Failure published by John Wiley & Sons Ltd on behalf of European Society of Cardiology. ;2024. 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: 2055-5822 ;EISSN: 2055-5822 ;DOI: 10.1002/ehf2.14694 ;PMID: 38361389Full text available |
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14 |
Material Type: Article
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Spectrum of congenital anomalies of the kidney and urinary tract (CAKUT) including renal parenchymal malformations during fetal life and the implementation of prenatal exome sequencing (WES)Archives of gynecology and obstetrics, 2024-06, Vol.309 (6), p.2613-2622 [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: 1432-0711 ;ISSN: 0932-0067 ;EISSN: 1432-0711 ;DOI: 10.1007/s00404-023-07165-8 ;PMID: 37535131Digital Resources/Online E-Resources |
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15 |
Material Type: Article
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Breast size in lactating women and the content of macronutrients in human milkAmerican journal of human biology, 2024-06, Vol.36 (6), p.e24055 [Peer Reviewed Journal]2024 Wiley Periodicals LLC. ;EISSN: 1520-6300 ;DOI: 10.1002/ajhb.24055 ;PMID: 38420902Digital Resources/Online E-Resources |
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16 |
Material Type: Article
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Impact of the operative technique on mid‐ and long‐term results following paediatric heart transplantationESC Heart Failure, 2024-06, Vol.11 (3), p.1602-1611 [Peer Reviewed Journal]2024 The Authors. ESC Heart Failure published by John Wiley & Sons Ltd on behalf of European Society of Cardiology. ;2024. 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: 2055-5822 ;EISSN: 2055-5822 ;DOI: 10.1002/ehf2.14718 ;PMID: 38378979Full text available |
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17 |
Material Type: Article
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HLA-haploidentical stem cell transplantation in children with inherited bone marrow failure syndromes: A retrospective analysis on behalf of EBMT severe aplastic Anemia and pediatric diseases working partiesAmerican journal of hematology, 2024-06, Vol.99 (6), p.1066 [Peer Reviewed Journal]2024 The Authors. American Journal of Hematology published by Wiley Periodicals LLC. ;EISSN: 1096-8652 ;DOI: 10.1002/ajh.27293 ;PMID: 38497679Digital Resources/Online E-Resources |
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18 |
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 |
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19 |
Material Type: Article
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Potential Association Between COVID-19 Vaccination and Facial Palsy: Three Cases With Neuroimaging FindingsEar, nose, & throat journal, 2024-06, Vol.103 (1_suppl), p.110S-114S [Peer Reviewed Journal]The Author(s) 2022 ;The Author(s) 2022 2022 SAGE Publications ;ISSN: 0145-5613 ;EISSN: 1942-7522 ;DOI: 10.1177/01455613221113818 ;PMID: 35855585Full text available |
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20 |
Material Type: Article
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Assessment of the CLOT (children's likelihood of thrombosis) real-time risk prediction model of hospital-associated venous thromboembolism in children with congenital heart diseaseThe American heart journal, 2024-06, Vol.272, p.37-47 [Peer Reviewed Journal]2024 The Author(s) ;Copyright © 2024 The Author(s). Published by Elsevier Inc. All rights reserved. ;2024. The Author(s) ;ISSN: 0002-8703 ;EISSN: 1097-6744 ;DOI: 10.1016/j.ahj.2024.03.012 ;PMID: 38521193Digital Resources/Online E-Resources |