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Peer-reviewed Journals (136,119)

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1	Material Type: Article	Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms International journal of molecular sciences, 2021-01, Vol.22 (2), p.911 [Peer Reviewed Journal] 2021. This work is licensed under http://creativecommons.org/licenses/by/3.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2021 by the authors. 2021 ;ISSN: 1422-0067 ;ISSN: 1661-6596 ;EISSN: 1422-0067 ;DOI: 10.3390/ijms22020911 ;PMID: 33477564 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
2	Material Type: Article	Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review BMC pediatrics, 2019-03, Vol.19 (1), p.86-86, Article 86 [Peer Reviewed Journal] 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: 1471-2431 ;EISSN: 1471-2431 ;DOI: 10.1186/s12887-019-1460-4 ;PMID: 30922288 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
3	Material Type: Article	Compound heterozygous mutation of the ASXL3 gene causes autosomal recessive congenital heart disease Human genetics, 2021-02, Vol.140 (2), p.333-348 [Peer Reviewed Journal] Springer-Verlag GmbH Germany, part of Springer Nature 2020 ;COPYRIGHT 2020 Springer ;Springer-Verlag GmbH Germany, part of Springer Nature 2020. ;ISSN: 0340-6717 ;EISSN: 1432-1203 ;DOI: 10.1007/s00439-020-02200-z ;PMID: 32696347 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
4	Material Type: Article	Disrupted ER membrane protein complex-mediated topogenesis drives congenital neural crest defects The Journal of clinical investigation, 2020-02, Vol.130 (2), p.813-826 [Peer Reviewed Journal] COPYRIGHT 2020 American Society for Clinical Investigation ;COPYRIGHT 2020 American Society for Clinical Investigation ;Copyright American Society for Clinical Investigation Feb 2020 ;2020 American Society for Clinical Investigation 2020 American Society for Clinical Investigation ;ISSN: 0021-9738 ;EISSN: 1558-8238 ;DOI: 10.1172/jci129308 ;PMID: 31904590 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
5	Material Type: Article	Single amino acid variation in MAB21L1 is dominantly associated with congenital eye defects Journal of medical genetics, 2023-07, Vol.60 (7), p.655-661 [Peer Reviewed Journal] Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ. ;Author(s) (or their employer(s)) 2023. 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. ;2023 Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg-2022-108506 ;PMID: 36446583 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
6	Material Type: Article	Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations Nature genetics, 2017-04, Vol.49 (4), p.613-617 [Peer Reviewed Journal] COPYRIGHT 2017 Nature Publishing Group ;COPYRIGHT 2017 Nature Publishing Group ;Copyright Nature Publishing Group Apr 2017 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.3815 ;PMID: 28288113 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
7	Material Type: Article	Bone fragility in patients affected by congenital diseases non skeletal in origin Orphanet journal of rare diseases, 2021-01, Vol.16 (1), p.11-11, Article 11 [Peer Reviewed Journal] COPYRIGHT 2021 BioMed Central Ltd. ;2021. 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) 2021 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-020-01611-5 ;PMID: 33407701 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
8	Material Type: Article	Mutations of small heat shock proteins and human congenital diseases Biochemistry (Moscow), 2012-12, Vol.77 (13), p.1500-1514 [Peer Reviewed Journal] Pleiades Publishing, Ltd. 2012 ;COPYRIGHT 2012 Springer ;ISSN: 0006-2979 ;EISSN: 1608-3040 ;DOI: 10.1134/S0006297912130081 ;PMID: 23379525 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
9	Material Type: Article	Congenital myasthenic syndromes Orphanet journal of rare diseases, 2019-02, Vol.14 (1), p.57-57, Article 57 [Peer Reviewed Journal] COPYRIGHT 2019 BioMed Central Ltd. ;COPYRIGHT 2019 BioMed Central Ltd. ;Copyright © 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/s13023-019-1025-5 ;PMID: 30808424 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
10	Material Type: Article	Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study The Lancet (British edition), 2019-02, Vol.393 (10173), p.747-757 [Peer Reviewed Journal] 2019 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY 4.0 license ;Copyright © 2019 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY 4.0 license. Published by Elsevier Ltd.. All rights reserved. ;2019. The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY 4.0 license. ;2019 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY 4.0 license 2019 ;ISSN: 0140-6736 ;EISSN: 1474-547X ;DOI: 10.1016/S0140-6736(18)31940-8 ;PMID: 30712880 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
11	Material Type: Article	Attenuation of congenital portosystemic shunt reduces inflammation in dogs PloS one, 2015-02, Vol.10 (2), p.e0117557-e0117557 [Peer Reviewed Journal] COPYRIGHT 2015 Public Library of Science ;COPYRIGHT 2015 Public Library of Science ;2015 Tivers et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2015 Tivers et al 2015 Tivers et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0117557 ;PMID: 25658922 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
12	Material Type: Article	Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review International journal of molecular sciences, 2023-05, Vol.24 (10), p.8632 [Peer Reviewed Journal] COPYRIGHT 2023 MDPI AG ;2023 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. ;2023 by the authors. 2023 ;ISSN: 1422-0067 ;ISSN: 1661-6596 ;EISSN: 1422-0067 ;DOI: 10.3390/ijms24108632 ;PMID: 37239976 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
13	Material Type: Article	Maternal Pre-Existing Diabetes: A Non-Inherited Risk Factor for Congenital Cardiopathies International journal of molecular sciences, 2023-11, Vol.24 (22), p.16258 [Peer Reviewed Journal] COPYRIGHT 2023 MDPI AG ;2023 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. ;Attribution ;ISSN: 1422-0067 ;ISSN: 1661-6596 ;EISSN: 1422-0067 ;DOI: 10.3390/ijms242216258 ;PMID: 38003449 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
14	Material Type: Article	Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart disease Stem cell research & therapy, 2023-12, Vol.14 (1), p.345-345, Article 345 [Peer Reviewed Journal] 2023. The Author(s). ;COPYRIGHT 2023 BioMed Central Ltd. ;2023. 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) 2023 ;ISSN: 1757-6512 ;EISSN: 1757-6512 ;DOI: 10.1186/s13287-023-03592-1 ;PMID: 38049901 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
15	Material Type: Article	Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease Genome medicine, 2020-08, Vol.12 (1), p.76-13, Article 76 [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: 1756-994X ;EISSN: 1756-994X ;DOI: 10.1186/s13073-020-00772-z ;PMID: 32859249 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
16	Material Type: Article	“Liu-Liang-Chung” syndrome with multiple congenital anomalies and the distinctive craniofacial features caused by dominant ZEB2 gene gain mutation BMC pediatrics, 2023-09, Vol.23 (1), p.1-480, Article 480 [Peer Reviewed Journal] COPYRIGHT 2023 BioMed Central Ltd. ;2023. 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. ;BioMed Central Ltd., part of Springer Nature 2023 ;ISSN: 1471-2431 ;EISSN: 1471-2431 ;DOI: 10.1186/s12887-023-04314-5 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
17	Material Type: Article	In silico prediction, molecular modeling, and dynamics studies on the targeted next-generation sequencing identified genes underlying congenital heart disease in Down syndrome patients Annals of pediatric cardiology, 2023-07, Vol.16 (4), p.266-275 [Peer Reviewed Journal] Copyright: © 2024 Annals of Pediatric Cardiology. ;COPYRIGHT 2023 Medknow Publications and Media Pvt. Ltd. ;2023. This article is published under (http://creativecommons.org/licenses/by-nc-sa/3.0/) (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 0974-2069 ;EISSN: 0974-5149 ;DOI: 10.4103/apc.apc_63_23 ;PMID: 38343505 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
18	Material Type: Article	Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders Genome medicine, 2017-08, Vol.9 (1), p.73-73, Article 73 [Peer Reviewed Journal] COPYRIGHT 2017 BioMed Central Ltd. ;COPYRIGHT 2017 BioMed Central Ltd. ;Copyright BioMed Central 2017 ;The Author(s). 2017 ;ISSN: 1756-994X ;EISSN: 1756-994X ;DOI: 10.1186/s13073-017-0463-8 ;PMID: 28807008 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
19	Material Type: Article	Recessive Mutations in COL25A1 Are a Cause of Congenital Cranial Dysinnervation Disorder American journal of human genetics, 2015-01, Vol.96 (1), p.147-152 [Peer Reviewed Journal] 2015 The American Society of Human Genetics ;Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Jan 8, 2015 ;2015 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2015 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2014.11.006 ;PMID: 25500261 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
20	Material Type: Article	HOTAIR Is a Potential Novel Biomarker in Patients with Congenital Heart Diseases BioMed research international, 2018-01, Vol.2018, p.2850657-7 [Peer Reviewed Journal] Copyright © 2018 Yu Jiang et al. ;COPYRIGHT 2018 Hindawi Limited ;Copyright © 2018 Yu Jiang et al.; This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. ;Copyright © 2018 Yu Jiang et al. 2018 ;ISSN: 2314-6133 ;EISSN: 2314-6141 ;DOI: 10.1155/2018/2850657 ;PMID: 29707567 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by