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Kết quả 1 - 10 của 341 trong Tất cả tài nguyên
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Material Type: Bài báo
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Identification of rare de novo epigenetic variations in congenital disordersNature communications, 2018-05, Vol.9 (1), p.2064-11, Article 2064 [Tạp chí có phản biện]2018. 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) 2018 ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-018-04540-x ;PMID: 29802345Tài liệu số/Tài liệu điện tử |
| 2 |
Material Type: Bài báo
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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 [Tạp chí có phản biện]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: 32958024Tài liệu số/Tài liệu điện tử |
| 3 |
Material Type: Bài báo
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De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapesNature communications, 2019-10, Vol.10 (1), p.4722-12, Article 4722 [Tạp chí có phản biện]2019. 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) 2019 ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-019-12582-y ;PMID: 31624253Tài liệu số/Tài liệu điện tử |
| 4 |
Material Type: Bài báo
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The impact of sirolimus therapy on lesion size, clinical symptoms, and quality of life of patients with lymphatic anomaliesOrphanet journal of rare diseases, 2019-06, Vol.14 (1), p.141-141, Article 141 [Tạp chí có phản biện]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: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-019-1118-1 ;PMID: 31196128Tài liệu số/Tài liệu điện tử |
| 5 |
Material Type: Bài báo
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Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart diseaseGenome medicine, 2018-07, Vol.10 (1), p.56-56, Article 56 [Tạp chí có phản biện]COPYRIGHT 2018 BioMed Central Ltd. ;Copyright © 2018. 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). 2018 ;ISSN: 1756-994X ;EISSN: 1756-994X ;DOI: 10.1186/s13073-018-0566-x ;PMID: 30029678Tài liệu số/Tài liệu điện tử |
| 6 |
Material Type: Bài báo
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Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective studyOrphanet journal of rare diseases, 2019-05, Vol.14 (1), p.96-96, Article 96 [Tạp chí có phản biện]COPYRIGHT 2019 BioMed Central Ltd. ;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: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-019-1077-6 ;PMID: 31053163Tài liệu số/Tài liệu điện tử |
| 7 |
Material Type: Bài báo
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A defect in myoblast fusion underlies Carey-Fineman-Ziter syndromeNature communications, 2017-07, Vol.8 (1), p.16077-16077, Article 16077 [Tạp chí có phản biện]Copyright Nature Publishing Group Jul 2017 ;Copyright © 2017, The Author(s) 2017 The Author(s) ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/ncomms16077 ;PMID: 28681861Tài liệu số/Tài liệu điện tử |
| 8 |
Material Type: Bài báo
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Altered white matter connectivity in children with congenital heart disease with single ventricle physiologyScientific reports, 2023-01, Vol.13 (1), p.1318-1318, Article 1318 [Tạp chí có phản biện]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. ;The Author(s) 2023 ;ISSN: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-023-28634-9 ;PMID: 36693986Tài liệu số/Tài liệu điện tử |
| 9 |
Material Type: Bài báo
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Risk factors for mortality in preterm infants with necrotizing enterocolitis: a retrospective multicenter analysisEuropean journal of pediatrics, 2022-03, Vol.181 (3), p.933-939 [Tạp chí có phản biện]The Author(s) 2021 ;2021. The Author(s). ;The Author(s) 2021. 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: 0340-6199 ;EISSN: 1432-1076 ;DOI: 10.1007/s00431-021-04266-x ;PMID: 34636956Tài liệu số/Tài liệu điện tử |
| 10 |
Material Type: Bài báo
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Morphological analysis of ventricular septal defect by echocardiography for prediction of aortic regurgitation in pediatric populationScientific reports, 2023-04, Vol.13 (1), p.6697-6697, Article 6697 [Tạp chí có phản biện]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. ;Distributed under a Creative Commons Attribution 4.0 International License ;The Author(s) 2023 ;ISSN: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-023-32940-7 ;PMID: 37095093Tài liệu số/Tài liệu điện tử |
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