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1 |
Material Type: Article
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Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular MechanismsInternational 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: 33477564Full text available |
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Material Type: Article
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In-Depth Genomic Analysis: The New Challenge in Congenital Heart DiseaseInternational journal of molecular sciences, 2024-02, Vol.25 (3), p.1734 [Peer Reviewed Journal]COPYRIGHT 2024 MDPI AG ;2024 by the author. 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/ijms25031734 ;PMID: 38339013Full text available |
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3 |
Material Type: Article
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Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic ReviewInternational 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: 37239976Full text available |
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4 |
Material Type: Article
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Maternal Pre-Existing Diabetes: A Non-Inherited Risk Factor for Congenital CardiopathiesInternational 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: 38003449Full text available |
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5 |
Material Type: Article
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The Role of Galectin-3 in Predicting Congenital Heart Disease Outcome: A Review of the LiteratureInternational journal of molecular sciences, 2023-06, Vol.24 (13), p.10511 [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/ijms241310511 ;PMID: 37445687Full text available |
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6 |
Material Type: Article
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Nipbl Haploinsufficiency Leads to Delayed Outflow Tract Septation and Aortic Valve ThickeningInternational journal of molecular sciences, 2023-10, Vol.24 (21), p.15564 [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. ;ISSN: 1422-0067 ;ISSN: 1661-6596 ;EISSN: 1422-0067 ;DOI: 10.3390/ijms242115564Full text available |
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7 |
Material Type: Article
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Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical ApproachInternational journal of molecular sciences, 2023-05, Vol.24 (9), p.8317 [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/ijms24098317 ;PMID: 37176024Full text available |
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8 |
Material Type: Article
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Dental Pulp-Derived Mesenchymal Stem Cells for Modeling Genetic DisordersInternational journal of molecular sciences, 2021-02, Vol.22 (5), p.2269 [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/ijms22052269 ;PMID: 33668763Full text available |
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9 |
Material Type: Article
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miRNAs in Heart Development and DiseaseInternational journal of molecular sciences, 2024-02, Vol.25 (3), p.1673 [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/ijms25031673 ;PMID: 38338950Full text available |
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10 |
Material Type: Article
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Targeted Proteomics Reveals Quantitative Differences in Low-Abundance Glycosyltransferases of Patients with Congenital Disorders of GlycosylationInternational journal of molecular sciences, 2024-01, Vol.25 (2), p.1191 [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/ijms25021191 ;PMID: 38256263Full text available |
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11 |
Material Type: Article
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ISMC5/I Plays Independent Roles in Congenital Heart Disease and Neurodevelopmental DisabilityInternational journal of molecular sciences, 2023-12, Vol.25 (1) [Peer Reviewed Journal]COPYRIGHT 2023 MDPI AG ;ISSN: 1422-0067 ;EISSN: 1422-0067 ;DOI: 10.3390/ijms25010430Full text available |
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12 |
Material Type: Article
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Molecular Basis of Müllerian Agenesis Causing Congenital Uterine Factor Infertility-A Systematic ReviewInternational journal of molecular sciences, 2023-12, Vol.25 (1), p.120 [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/ijms25010120 ;PMID: 38203291Full text available |
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13 |
Material Type: Article
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The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic SyndromesInternational journal of molecular sciences, 2018-06, Vol.19 (6), p.1677 [Peer Reviewed Journal]2018. This work is licensed under https://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. ;2018 by the authors. 2018 ;ISSN: 1422-0067 ;ISSN: 1661-6596 ;EISSN: 1422-0067 ;DOI: 10.3390/ijms19061677 ;PMID: 29874875Full text available |
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14 |
Material Type: Article
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Systematic Review: Drug Repositioning for Congenital Disorders of Glycosylation (CDG)International journal of molecular sciences, 2022-08, Vol.23 (15), p.8725 [Peer Reviewed Journal]2022 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. ;2022 by the authors. 2022 ;ISSN: 1422-0067 ;ISSN: 1661-6596 ;EISSN: 1422-0067 ;DOI: 10.3390/ijms23158725 ;PMID: 35955863Full text available |
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15 |
Material Type: Article
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Human Fibrinogen: Molecular and Genetic Aspects of Congenital DisordersInternational journal of molecular sciences, 2018-05, Vol.19 (6), p.1597 [Peer Reviewed Journal]2018. This work is licensed under https://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. ;2018 by the authors. 2018 ;ISSN: 1422-0067 ;ISSN: 1661-6596 ;EISSN: 1422-0067 ;DOI: 10.3390/ijms19061597 ;PMID: 29844251Full text available |
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16 |
Material Type: Article
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Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German CohortInternational journal of molecular sciences, 2023-05, Vol.24 (10), p.8915 [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/ijms24108915 ;PMID: 37240262Full text available |
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17 |
Material Type: Article
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Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive ReviewInternational journal of molecular sciences, 2023-02, Vol.24 (4), p.3730 [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/ijms24043730 ;PMID: 36835142Full text available |
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18 |
Material Type: Article
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Mitochondrial Mutations Can Alter Neuromuscular Transmission in Congenital Myasthenic Syndrome and Mitochondrial DiseaseInternational journal of molecular sciences, 2023-05, Vol.24 (10), p.8505 [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/ijms24108505 ;PMID: 37239850Full text available |
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19 |
Material Type: Article
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p53 Activation in Genetic Disorders: Different Routes to the Same DestinationInternational journal of molecular sciences, 2021-08, Vol.22 (17), p.9307 [Peer Reviewed Journal]2021 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. ;2021 by the authors. 2021 ;ISSN: 1422-0067 ;ISSN: 1661-6596 ;EISSN: 1422-0067 ;DOI: 10.3390/ijms22179307 ;PMID: 34502215Full text available |
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20 |
Material Type: Article
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46,XX DSD due to Androgen Excess in Monogenic Disorders of Steroidogenesis: Genetic, Biochemical, and Clinical FeaturesInternational journal of molecular sciences, 2019-09, Vol.20 (18), p.4605 [Peer Reviewed Journal]2019. This work is licensed under https://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. ;2019 by the authors. 2019 ;ISSN: 1422-0067 ;ISSN: 1661-6596 ;EISSN: 1422-0067 ;DOI: 10.3390/ijms20184605 ;PMID: 31533357Full text available |