Language:

Results 1 - 20 of 103 for All Library Resources

Sorted by: Sorted by: RelevanceOr hit Enter to replace sort method

Results 1 2 3 4 5

Show only

Digital Resources/Online E-Resources (102)

Refined by: Database: Journals@Ovid Open Access Journal Collection Rolling

subject: Mutation

Result Number	Material Type	Record Details and Options
1	Material Type: Article	Acute Hepatic Porphyrias: Review and Recent Progress Hepatology communications, 2019-02, Vol.3 (2), p.193-206 [Peer Reviewed Journal] 2018 The Authors. Hepatology Communications published by Wiley Periodicals, Inc., on behalf of the American Association for the Study of Liver Diseases. ;2019. 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: 2471-254X ;EISSN: 2471-254X ;DOI: 10.1002/hep4.1297 ;PMID: 30766957 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
2	Material Type: Article	A Norrin/Wnt surrogate antibody stimulates endothelial cell barrier function and rescues retinopathy EMBO molecular medicine, 2021-07, Vol.13 (7), p.e13977-n/a [Peer Reviewed Journal] 2021 The Authors. Published under the terms of the CC BY 4.0 license ;COPYRIGHT 2021 John Wiley & Sons, Inc. ;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: 1757-4676 ;EISSN: 1757-4684 ;DOI: 10.15252/emmm.202113977 ;PMID: 34105895 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
3	Material Type: Article	The onset of PI3K‐related vascular malformations occurs during angiogenesis and is prevented by the AKT inhibitor miransertib EMBO molecular medicine, 2022-07, Vol.14 (7), p.e15619-n/a [Peer Reviewed Journal] 2022 The Authors. Published under the terms of the CC BY 4.0 license ;2022 The Authors. Published under the terms of the CC BY 4.0 license. ;2022. 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: 1757-4676 ;ISSN: 1757-4684 ;EISSN: 1757-4684 ;DOI: 10.15252/emmm.202115619 ;PMID: 35695059 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
4	Material Type: Article	The congenital muscular dystrophies Annals of the Child Neurology Society, 2024-03, Vol.2 (1), p.27-39 [Peer Reviewed Journal] 2024 The Authors. published by Wiley Periodicals LLC on behalf of the Child Neurology Society. ;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: 2831-3267 ;ISSN: 1755-5930 ;EISSN: 2831-3267 ;EISSN: 1755-5949 ;DOI: 10.1002/cns3.20050 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
5	Material Type: Article	KYNU, a novel potential target that underpins CD44‐promoted breast tumour cell invasion Journal of cellular and molecular medicine, 2021-03, Vol.25 (5), p.2309-2314 [Peer Reviewed Journal] 2021 The Authors. Journal of Cellular and Molecular Medicine published by Foundation for Cellular and Molecular Medicine and John Wiley & Sons Ltd. ;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: 1582-1838 ;EISSN: 1582-4934 ;DOI: 10.1111/jcmm.16296 ;PMID: 33486887 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
6	Material Type: Article	Musculoskeletal defects associated with myosin heavy chain-embryonic loss of function are mediated by the YAP signaling pathway EMBO molecular medicine, 2023-09, Vol.15 (9), p.e17187-e17187 [Peer Reviewed Journal] 2023 The Authors. Published under the terms of the CC BY 4.0 license. ;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. ;2023 The Authors. Published under the terms of the CC BY 4.0 license ;ISSN: 1757-4676 ;EISSN: 1757-4684 ;DOI: 10.15252/emmm.202217187 ;PMID: 37492882 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
7	Material Type: Article	Clinicopathological‐genetic features of congenital myasthenic syndrome from a Chinese neuromuscular centre Journal of cellular and molecular medicine, 2022-07, Vol.26 (14), p.3828-3836 [Peer Reviewed Journal] 2022 The Authors. published by Foundation for Cellular and Molecular Medicine and John Wiley & Sons Ltd. ;2022 The Authors. Journal of Cellular and Molecular Medicine published by Foundation for Cellular and Molecular Medicine and John Wiley & Sons Ltd. ;2022. 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: 1582-1838 ;EISSN: 1582-4934 ;DOI: 10.1111/jcmm.17417 ;PMID: 35670010 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
8	Material Type: Article	From phenotype to mechanism: Prenatal spectrum of NKAP mutation‐related disorder and its pathogenesis inducing congenital heart disease Journal of cellular and molecular medicine, 2024-04, Vol.28 (8), p.e18305-n/a [Peer Reviewed Journal] 2024 The Authors. published by Foundation for Cellular and Molecular Medicine and John Wiley & Sons Ltd. ;2024 The Authors. Journal of Cellular and Molecular Medicine published by Foundation for Cellular and Molecular Medicine and John Wiley & Sons Ltd. ;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. ;ISSN: 1582-1838 ;EISSN: 1582-4934 ;DOI: 10.1111/jcmm.18305 ;PMID: 38647244 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
9	Material Type: Article	Mutations in alpha‐B‐crystallin cause autosomal dominant axonal Charcot–Marie–Tooth disease with congenital cataracts European journal of neurology, 2024-01, Vol.31 (1), p.e16063-n/a [Peer Reviewed Journal] 2023 The Authors. published by John Wiley & Sons Ltd on behalf of European Academy of Neurology. ;2023 The Authors. European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology. ;2023. This article 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: 1351-5101 ;EISSN: 1468-1331 ;DOI: 10.1111/ene.16063 ;PMID: 37772343 Digital Resources/Online E-Resources Services Details Recommendations Reviews Times Cited Citations Cited by
10	Material Type: Article	Cilia‐related diseases Journal of cellular and molecular medicine, 2023-12, Vol.27 (24), p.3974-3979 [Peer Reviewed Journal] 2023 The Authors. published by Foundation for Cellular and Molecular Medicine and John Wiley & Sons Ltd. ;2023 The Authors. Journal of Cellular and Molecular Medicine published by Foundation for Cellular and Molecular Medicine and John Wiley & Sons Ltd. ;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: 1582-1838 ;EISSN: 1582-4934 ;DOI: 10.1111/jcmm.17990 ;PMID: 37830491 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
11	Material Type: Article	TUBB 1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology EMBO molecular medicine, 2018-12, Vol.10 (12) [Peer Reviewed Journal] 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. ;ISSN: 1757-4676 ;EISSN: 1757-4684 ;DOI: 10.15252/emmm.201809569 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
12	Material Type: Article	Cingulin regulates hair cell cuticular plate morphology and is required for hearing in human and mouse EMBO molecular medicine, 2023-11, Vol.15 (11), p.e17611-e17611 [Peer Reviewed Journal] 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. ;2023 The Authors. Published under the terms of the CC BY 4.0 license. ;ISSN: 1757-4676 ;EISSN: 1757-4684 ;DOI: 10.15252/emmm.202317611 ;PMID: 37691516 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
13	Material Type: Article	Ubiquitin‐specific peptidases: Players in bone metabolism Cell proliferation, 2023-08, Vol.56 (8), p.e13444-n/a [Peer Reviewed Journal] 2023 The Authors. published by Beijing Institute for Stem Cell and Regenerative Medicine and John Wiley & Sons Ltd. ;2023 The Authors. Cell Proliferation published by Beijing Institute for Stem Cell and Regenerative Medicine and John Wiley & Sons Ltd. ;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: 0960-7722 ;EISSN: 1365-2184 ;DOI: 10.1111/cpr.13444 ;PMID: 36883930 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
14	Material Type: Article	Charcot–Marie‐Tooth type 2A in vivo models: Current updates Journal of cellular and molecular medicine, 2024-05, Vol.28 (9), p.e18293-n/a [Peer Reviewed Journal] 2024 The Authors. published by Foundation for Cellular and Molecular Medicine and John Wiley & Sons Ltd. ;2024 The Authors. Journal of Cellular and Molecular Medicine published by Foundation for Cellular and Molecular Medicine and John Wiley & Sons Ltd. ;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. ;ISSN: 1582-1838 ;EISSN: 1582-4934 ;DOI: 10.1111/jcmm.18293 ;PMID: 38722298 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
15	Material Type: Article	Autosomal recessive non‐syndromic hearing loss genes in Pakistan during the previous three decades Journal of cellular and molecular medicine, 2024-04, Vol.28 (8), p.e18119-n/a [Peer Reviewed Journal] 2024 The Authors. published by Foundation for Cellular and Molecular Medicine and John Wiley & Sons Ltd. ;2024 The Authors. Journal of Cellular and Molecular Medicine published by Foundation for Cellular and Molecular Medicine and John Wiley & Sons Ltd. ;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. ;ISSN: 1582-1838 ;EISSN: 1582-4934 ;DOI: 10.1111/jcmm.18119 ;PMID: 38534090 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
16	Material Type: Article	Role of non‐coding variants in cardiovascular disease Journal of cellular and molecular medicine, 2023-06, Vol.27 (12), p.1621-1636 [Peer Reviewed Journal] 2023 The Authors. published by Foundation for Cellular and Molecular Medicine and John Wiley & Sons Ltd. ;2023 The Authors. Journal of Cellular and Molecular Medicine published by Foundation for Cellular and Molecular Medicine and John Wiley & Sons Ltd. ;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: 1582-1838 ;EISSN: 1582-4934 ;DOI: 10.1111/jcmm.17762 ;PMID: 37183561 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
17	Material Type: Article	A new hERG allosteric modulator rescues genetic and drug‐induced long‐QT syndrome phenotypes in cardiomyocytes from isogenic pairs of patient induced pluripotent stem cells EMBO molecular medicine, 2016-09, Vol.8 (9), p.1065-1081 [Peer Reviewed Journal] 2016 The Authors. Published under the terms of the CC BY 4.0 license ;2016 The Authors. Published under the terms of the CC BY 4.0 license. ;COPYRIGHT 2016 John Wiley & Sons, Inc. ;2016. 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: 1757-4676 ;EISSN: 1757-4684 ;DOI: 10.15252/emmm.201606260 ;PMID: 27470144 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
18	Material Type: Article	Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim EMBO molecular medicine, 2018-01, Vol.10 (1), p.63-75 [Peer Reviewed Journal] 2017 The Authors. Published under the terms of the CC BY 4.0 license ;2017 The Authors. Published under the terms of the CC BY 4.0 license. ;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. ;ISSN: 1757-4676 ;EISSN: 1757-4684 ;DOI: 10.15252/emmm.201708168 ;PMID: 29191945 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
19	Material Type: Article	Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion Chinese medical journal, 2023-09, Vol.136 (17), p.2107-2109 [Peer Reviewed Journal] Copyright © 2023 The Chinese Medical Association, produced by Wolters Kluwer, Inc. under the CC-BY-NC-ND license. 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. ;Copyright © 2023 The Chinese Medical Association, produced by Wolters Kluwer, Inc. under the CC-BY-NC-ND license. 2023 ;ISSN: 0366-6999 ;EISSN: 2542-5641 ;DOI: 10.1097/CM9.0000000000002285 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
20	Material Type: Article	A case of congenital myopathy accompanied by tremor due to a MYBPC1 mutation Pediatric investigation, 2022-01, Vol.64 (1), p.e15061 [Peer Reviewed Journal] Copyright John Wiley & Sons, Inc. Jan/Dec 2022 ;ISSN: 2096-3726 ;EISSN: 1442-200X ;EISSN: 2574-2272 ;DOI: 10.1111/ped.15061 ;PMID: 35510679 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by