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Material Type: Article
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Pharmaceutical strategies for preventing toxicity and promoting antioxidant and anti-inflammatory actions of bilirubinJournal of enzyme inhibition and medicinal chemistry, 2022-12, Vol.37 (1), p.487-501 [Peer Reviewed Journal]2022 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group. 2022 ;2022 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group. This work is licensed under the Creative Commons Attribution License 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. ;2022 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group. 2022 The Author(s) ;ISSN: 1475-6366 ;EISSN: 1475-6374 ;DOI: 10.1080/14756366.2021.2020773 ;PMID: 34986721Full text available |
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Material Type: Article
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The Current Status of Gene Therapy for the Treatment of CancerBiologics, 2021-01, Vol.15, p.67-77 [Peer Reviewed Journal]2021 Belete. ;COPYRIGHT 2021 Dove Medical Press Limited ;COPYRIGHT 2021 Dove Medical Press Limited ;2021. This work is licensed under https://creativecommons.org/licenses/by-nc/3.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2021 Belete. 2021 Belete. ;ISSN: 1177-5475 ;ISSN: 1177-5491 ;EISSN: 1177-5491 ;DOI: 10.2147/BTT.S302095 ;PMID: 33776419Full text available |
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Material Type: Article
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Inotersen: new promise for the treatment of hereditary transthyretin amyloidosisDrug design, development and therapy, 2019-05, Vol.13, p.1515-1525 [Peer Reviewed Journal]COPYRIGHT 2019 Dove Medical Press Limited ;COPYRIGHT 2019 Dove Medical Press Limited ;2019. This work is licensed under https://creativecommons.org/licenses/by-nc/3.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2019 Mathew and Wang. This work is published and licensed by Dove Medical Press Limited 2019 ;ISSN: 1177-8881 ;EISSN: 1177-8881 ;DOI: 10.2147/dddt.s162913 ;PMID: 31118583Full text available |
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Material Type: Article
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Volanesorsen in the Treatment of Familial Chylomicronemia Syndrome or Hypertriglyceridaemia: Design, Development and Place in TherapyDrug design, development and therapy, 2020-01, Vol.14, p.2623-2636 [Peer Reviewed Journal]COPYRIGHT 2020 Dove Medical Press Limited ;COPYRIGHT 2020 Dove Medical Press Limited ;2020. This work is licensed under https://creativecommons.org/licenses/by-nc/3.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2020 Esan and Wierzbicki. 2020 Esan and Wierzbicki. ;ISSN: 1177-8881 ;EISSN: 1177-8881 ;DOI: 10.2147/DDDT.S224771 ;PMID: 32753844Full text available |
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Material Type: Article
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Spinal Muscular Atrophy: Mutations, Testing, and Clinical RelevanceApplication of clinical genetics, 2021, Vol.14, p.11-25 [Peer Reviewed Journal]2021 Keinath et al. ;COPYRIGHT 2021 Dove Medical Press Limited ;2021. This work is licensed under https://creativecommons.org/licenses/by-nc/3.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2021 Keinath et al. 2021 Keinath et al. ;ISSN: 1178-704X ;EISSN: 1178-704X ;DOI: 10.2147/TACG.S239603 ;PMID: 33531827Full text available |
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Material Type: Article
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Clinical Utility of Elosulfase Alfa in the Treatment of Morquio A SyndromeDrug design, development and therapy, 2022, Vol.16, p.143-154 [Peer Reviewed Journal]2022 Lee et al. ;COPYRIGHT 2022 Dove Medical Press Limited ;2022. This work is licensed under https://creativecommons.org/licenses/by-nc/3.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2022 Lee et al. 2022 Lee et al. ;ISSN: 1177-8881 ;EISSN: 1177-8881 ;DOI: 10.2147/DDDT.S219433 ;PMID: 35046639Full text available |
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Material Type: Article
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Mowat-Wilson Syndrome as a Differential Diagnosis in Patients with Congenital Heart Defects and Dysmorphic FaciesPharmacogenomics and personalized medicine, 2022-11, Vol.15, p.913-918 [Peer Reviewed Journal]2022. This work is licensed under https://creativecommons.org/licenses/by-nc/3.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2022 Pachajoa et al. 2022 Pachajoa et al. ;ISSN: 1178-7066 ;EISSN: 1178-7066 ;DOI: 10.2147/PGPM.S380908Full text available |
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Material Type: Article
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A Novel POGZ Variant in a Patient with Intellectual Disability and ObesityApplication of clinical genetics, 2022-07, Vol.15, p.63-68 [Peer Reviewed Journal]COPYRIGHT 2022 Dove Medical Press Limited ;2022. This work is licensed under https://creativecommons.org/licenses/by-nc/3.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2022 Giraldo-Ocampo et al. 2022 Giraldo-Ocampo et al. ;ISSN: 1178-704X ;EISSN: 1178-704X ;DOI: 10.2147/TACG.S369483 ;PMID: 35821784Full text available |
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Material Type: Article
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A Novel Intronic KMT2D Variant as a Cause of Kabuki Syndrome: A Case ReportApplication of clinical genetics, 2021-10, Vol.14, p.409-416 [Peer Reviewed Journal]COPYRIGHT 2021 Dove Medical Press Limited ;2021. This work is licensed under https://creativecommons.org/licenses/by-nc/3.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2021 Aristizábal et al. 2021 Aristizábal et al. ;ISSN: 1178-704X ;EISSN: 1178-704X ;DOI: 10.2147/TACG.S317723 ;PMID: 34675602Full text available |
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Material Type: Article
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A Novel Missense Mutation in TWNK Gene Causing Perrault Syndrome Type 5 in a Chinese Family and Review of the LiteraturePharmacogenomics and personalized medicine, 2022-01, Vol.15 (1), p.1-8 [Peer Reviewed Journal]2022 Wei et al. ;COPYRIGHT 2022 Dove Medical Press Limited ;2022. This work is licensed under https://creativecommons.org/licenses/by-nc/3.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2022 Wei et al. 2022 Wei et al. ;ISSN: 1178-7066 ;EISSN: 1178-7066 ;DOI: 10.2147/PGPM.S341172 ;PMID: 35035228Full text available |
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Material Type: Article
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Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin SyndromeApplication of clinical genetics, 2022-01, Vol.15, p.1-10 [Peer Reviewed Journal]2022 Zabnenkova et al. ;COPYRIGHT 2022 Dove Medical Press Limited ;2022. This work is licensed under https://creativecommons.org/licenses/by-nc/3.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2022 Zabnenkova et al. 2022 Zabnenkova et al. ;ISSN: 1178-704X ;EISSN: 1178-704X ;DOI: 10.2147/TACG.S342804 ;PMID: 35023948Full text available |
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Material Type: Article
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First Two Case Reports of Becker's Type Myotonia Congenita in Colombia: Clinical and Genetic FeaturesApplication of clinical genetics, 2021-12, Vol.14, p.473-479 [Peer Reviewed Journal]2021 Olave-Rodriguez et al. ;COPYRIGHT 2021 Dove Medical Press Limited ;2021. This work is licensed under https://creativecommons.org/licenses/by-nc/3.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2021 Olave-Rodriguez et al. 2021 Olave-Rodriguez et al. ;ISSN: 1178-704X ;EISSN: 1178-704X ;DOI: 10.2147/TACG.S323559 ;PMID: 34938096Full text available |
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Material Type: Article
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A Novel Frameshift Mutation, Deletion of HBB:c.199_202delAAAG [Codon 66/67 (-AAAG)] in β-Thalassemia Major Patients from the Western Region of Uttar Pradesh, IndiaApplication of clinical genetics, 2021-01, Vol.14, p.77-85 [Peer Reviewed Journal]2021 Chauhan et al. ;2021. This work is licensed under https://creativecommons.org/licenses/by-nc/3.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2021 Chauhan et al. 2021 Chauhan et al. ;ISSN: 1178-704X ;EISSN: 1178-704X ;DOI: 10.2147/TACG.S294891 ;PMID: 33688235Full text available |
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Material Type: Article
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Total hip replacement in young adults with hip dysplasia: Age at diagnosis, previous treatment, quality of life, and validation of diagnoses reported to the Norwegian Arthroplasty Register between 1987 and 2007Acta orthopaedica, 2011-04, Vol.82 (2), p.149-154 [Peer Reviewed Journal]Copyright: © Nordic Orthopaedic Federation 2011 ;2015 INIST-CNRS ;ISSN: 1745-3674 ;EISSN: 1745-3682 ;DOI: 10.3109/17453674.2011.566146 ;PMID: 21434808Full text available |
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15 |
Material Type: Article
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LQTS founder population in Northern Sweden - the natural history of a potentially fatal inherited cardiac disorderBiodemography and social biology, 2020-10, Vol.66 (3-4), p.191-207 [Peer Reviewed Journal]2021 The Author(s). Published with license by Taylor & Francis Group, LLC. 2021 ;ISSN: 1948-5565 ;ISSN: 1948-5573 ;EISSN: 1948-5573 ;DOI: 10.1080/19485565.2021.1999788Digital Resources/Online E-Resources |
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16 |
Material Type: Article
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Successful Pregnancy Following Preimplantation Genetic Diagnosis of Adrenoleukodystrophy by Detection of Mutation on the ABCD1 GeneApplication of clinical genetics, 2021, Vol.14, p.313-319 [Peer Reviewed Journal]2021. This work is licensed under https://creativecommons.org/licenses/by-nc/3.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2021 Trinh The et al. 2021 Trinh The et al. ;ISSN: 1178-704X ;EISSN: 1178-704X ;DOI: 10.2147/TACG.S318884 ;PMID: 34285547Full text available |
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Material Type: Article
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The knowledge, attitudes and practices regarding family history of hereditary diseases amongst undergraduate students at the University of the Free StateSouth African family practice, 2022-01, Vol.64 (1), p.e1-e8 [Peer Reviewed Journal]COPYRIGHT 2022 African Online Scientific Information Systems (Pty) Ltd t/a AOSIS ;2022. The Authors 2022 ;ISSN: 2078-6190 ;EISSN: 2078-6204 ;DOI: 10.4102/safp.v64i1.5392 ;PMID: 35144466Full text available |
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Prenatal Diagnosis of Pfeiffer Syndrome Patient with FGFR2 C.940-1G>C Variant: A Case ReportApplication of clinical genetics, 2020-01, Vol.13, p.147-150 [Peer Reviewed Journal]2020 Torres-Canchala et al. ;2020. This work is licensed under https://creativecommons.org/licenses/by-nc/3.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2020 Torres-Canchala et al. 2020 Torres-Canchala et al. ;ISSN: 1178-704X ;EISSN: 1178-704X ;DOI: 10.2147/TACG.S251581 ;PMID: 32848441Full text available |
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Sinonasal inhalation of tobramycin vibrating aerosol in cystic fibrosis patients with upper airway Pseudomonas aeruginosa colonization: results of a randomized, double-blind, placebo-controlled pilot studyDrug design, development and therapy, 2014-01, Vol.8 (default), p.209-217 [Peer Reviewed Journal]COPYRIGHT 2014 Dove Medical Press Limited ;COPYRIGHT 2014 Dove Medical Press Limited ;2014. This work is licensed under https://creativecommons.org/licenses/by-nc/3.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2014 Mainz et al. This work is published by Dove Medical Press Limited, and licensed under Creative Commons Attribution – Non Commercial (unported, v3.0) License 2014 ;ISSN: 1177-8881 ;EISSN: 1177-8881 ;DOI: 10.2147/DDDT.S54064 ;PMID: 24596456Full text available |
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Material Type: Article
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Spotlight on Warsaw Breakage SyndromeApplication of clinical genetics, 2019-01, Vol.12, p.239-248 [Peer Reviewed Journal]2019 Pisani. ;2019. This work is licensed under https://creativecommons.org/licenses/by-nc/3.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2019 Pisani. 2019 Pisani. ;ISSN: 1178-704X ;EISSN: 1178-704X ;DOI: 10.2147/TACG.S186476 ;PMID: 31824187Full text available |