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Peer-reviewed Journals (101)

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subject: Mutation

Result Number	Material Type	Record Details and Options
1	Material Type: Article	Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis Orphanet journal of rare diseases, 2020-06, Vol.15 (1), p.1-141, Article 141 [Peer Reviewed Journal] 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. ;Attribution ;The Author(s) 2020 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-020-01430-8 ;PMID: 32503598 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
2	Material Type: Article	Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita Journal of medical genetics, 2022-06, Vol.59 (6), p.559-567 [Peer Reviewed Journal] Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. ;Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. ;2022 Author(s) (or their employer(s)) 2022. 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. ;Distributed under a Creative Commons Attribution 4.0 International License ;Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. 2022 ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2020-107595 ;PMID: 33820833 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
3	Material Type: Article	Congenital Titinopathy: Comprehensive characterization and pathogenic insights Annals of neurology, 2018-06, Vol.83 (6), p.1105-1124 [Peer Reviewed Journal] 2018 American Neurological Association. ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0364-5134 ;EISSN: 1531-8249 ;DOI: 10.1002/ana.25241 ;PMID: 29691892 Digital Resources/Online E-Resources View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
4	Material Type: Article	The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing The journal of clinical endocrinology and metabolism, 2023-08, Vol.108 (9), p.e779-e788 [Peer Reviewed Journal] The Author(s) 2023. Published by Oxford University Press on behalf of the Endocrine Society. 2023 ;The Author(s) 2023. Published by Oxford University Press on behalf of the Endocrine Society. ;Attribution - NonCommercial - NoDerivatives ;ISSN: 0021-972X ;EISSN: 1945-7197 ;DOI: 10.1210/clinem/dgad119 ;PMID: 36884306 Digital Resources/Online E-Resources View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
5	Material Type: Article	Homozygous C-terminal loss-of-function NaV1.4 variant in a patient with congenital myasthenic syndrome Journal of neurology, neurosurgery and psychiatry, 2020-08, Vol.91 (8), p.898-900 [Peer Reviewed Journal] Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ. ;2020 Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ. ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0022-3050 ;EISSN: 1468-330X ;DOI: 10.1136/jnnp-2020-323173 ;PMID: 32487525 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
6	Material Type: Article	Caenorhabditis elegans models for striated muscle disorders caused by missense variants of human LMNA PLoS genetics, 2023-08, Vol.19 (8), p.e1010895-e1010895 [Peer Reviewed Journal] COPYRIGHT 2023 Public Library of Science ;2023 Gregory 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. ;Distributed under a Creative Commons Attribution 4.0 International License ;2023 Gregory et al 2023 Gregory et al ;ISSN: 1553-7404 ;ISSN: 1553-7390 ;EISSN: 1553-7404 ;DOI: 10.1371/journal.pgen.1010895 ;PMID: 37624850 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
7	Material Type: Article	New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani–Lenz syndrome Scientific reports, 2023-08, Vol.13 (1), p.14054-14054, Article 14054 [Peer Reviewed Journal] 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. ;Attribution ;Springer Nature Limited 2023 ;ISSN: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-023-41008-5 ;PMID: 37640745 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
8	Material Type: Article	Myotonic Dystrophies: State of the Art of New Therapeutic Developments for the CNS Frontiers in cellular neuroscience, 2017-04, Vol.11, p.101-101 [Peer Reviewed Journal] 2017. 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. ;Distributed under a Creative Commons Attribution 4.0 International License ;Copyright © 2017 Gourdon and Meola. 2017 Gourdon and Meola ;ISSN: 1662-5102 ;EISSN: 1662-5102 ;DOI: 10.3389/fncel.2017.00101 ;PMID: 28473756 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
9	Material Type: Article	Nipbl Haploinsufficiency Leads to Delayed Outflow Tract Septation and Aortic Valve Thickening International journal of molecular sciences, 2023-11, 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. ;Attribution ;ISSN: 1422-0067 ;ISSN: 1661-6596 ;EISSN: 1422-0067 ;DOI: 10.3390/ijms242115564 ;PMID: 37958548 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
10	Material Type: Article	New developments in the molecular treatment of ichthyosis: review of the literature Orphanet journal of rare diseases, 2022-07, Vol.17 (1), p.269-269, Article 269 [Peer Reviewed Journal] 2022. The Author(s). ;COPYRIGHT 2022 BioMed Central Ltd. ;2022. 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. ;Attribution ;The Author(s) 2022 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-022-02430-6 ;PMID: 35840979 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
11	Material Type: Article	The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis Journal of medical genetics, 2011-06, Vol.48 (6), p.396-406 [Peer Reviewed Journal] 2011, Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions. ;2015 INIST-CNRS ;Copyright: 2011 (c) 2011, Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions. ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.2010.087528 ;PMID: 21441262 ;CODEN: JMDGAE Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
12	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
13	Material Type: Article	Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy Journal of medical genetics, 2021-09, Vol.58 (9), p.602-608 [Peer Reviewed Journal] Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. ;2021 Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. 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. ;Distributed under a Creative Commons Attribution 4.0 International License ;Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. 2021 ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2019-106714 ;PMID: 32994279 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
14	Material Type: Article	Autoimmune amelogenesis imperfecta in patients with APS-1 and coeliac disease Nature (London), 2023-12, Vol.624 (7992), p.653-662 [Peer Reviewed Journal] 2023. The Author(s), under exclusive licence to Springer Nature Limited. ;Copyright Nature Publishing Group Dec 21-Dec 28, 2023 ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/s41586-023-06776-0 ;PMID: 37993717 Digital Resources/Online E-Resources View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
15	Material Type: Article	Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies Orphanet journal of rare diseases, 2022-05, Vol.17 (1), p.197-197, Article 197 [Peer Reviewed Journal] 2022. The Author(s). ;2022. 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. ;Distributed under a Creative Commons Attribution 4.0 International License ;The Author(s) 2022 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-022-02340-7 ;PMID: 35551639 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
16	Material Type: Article	A Dominant Mutation in the Gene Encoding the Erythroid Transcription Factor KLF1 Causes a Congenital Dyserythropoietic Anemia American journal of human genetics, 2010-11, Vol.87 (5), p.721-727 [Peer Reviewed Journal] 2010 The American Society of Human Genetics ;2015 INIST-CNRS ;Copyright © 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Nov 12, 2010 ;Distributed under a Creative Commons Attribution 4.0 International License ;2010 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2010 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2010.10.010 ;PMID: 21055716 ;CODEN: AJHGAG Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
17	Material Type: Article	Characterization of Two Mouse Chd7 Heterozygous Loss-of-Function Models Shows Dysgenesis of the Corpus Callosum and Previously Unreported Features of CHARGE Syndrome International journal of molecular sciences, 2022-09, Vol.23 (19), p.11509 [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. ;Distributed under a Creative Commons Attribution 4.0 International License ;2022 by the authors. 2022 ;ISSN: 1422-0067 ;ISSN: 1661-6596 ;EISSN: 1422-0067 ;DOI: 10.3390/ijms231911509 ;PMID: 36232804 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
18	Material Type: Article	Unravelling the genetic causes of multiple malformation syndromes: A whole exome sequencing study of the Cypriot population PloS one, 2021-07, Vol.16 (7), p.e0253562-e0253562 [Peer Reviewed Journal] COPYRIGHT 2021 Public Library of Science ;2021 Kritioti 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. ;Attribution ;2021 Kritioti et al 2021 Kritioti et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0253562 ;PMID: 34324503 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
19	Material Type: Article	Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances International journal of molecular sciences, 2021-10, Vol.22 (21), p.11377 [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. ;Distributed under a Creative Commons Attribution 4.0 International License ;2021 by the authors. 2021 ;ISSN: 1422-0067 ;ISSN: 1661-6596 ;EISSN: 1422-0067 ;DOI: 10.3390/ijms222111377 ;PMID: 34768808 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
20	Material Type: Article	Lack of NKG2D in MAGT1-deficient patients is caused by hypoglycosylation Human genetics, 2022-07, Vol.141 (7), p.1279-1286 [Peer Reviewed Journal] The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2022 ;2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature. ;COPYRIGHT 2022 Springer ;The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2022. ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0340-6717 ;EISSN: 1432-1203 ;DOI: 10.1007/s00439-021-02400-1 ;PMID: 35182234 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by