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Material Type: Article
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A "late-but-fitter revertant cell" explains the high frequency of revertant mosaicism in epidermolysis bullosaPloS one, 2018-02, Vol.13 (2), p.e0192994-e0192994 [Peer Reviewed Journal]COPYRIGHT 2018 Public Library of Science ;COPYRIGHT 2018 Public Library of Science ;2018 van den Akker 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. ;2018 van den Akker et al 2018 van den Akker et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0192994 ;PMID: 29470523Full text available |
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Material Type: Article
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Ethical challenges of using remote monitoring technologies for clinical research: A case study of the role of local research ethics committees in the RADAR-AD studyPloS one, 2023-07, Vol.18 (7), p.e0285807-e0285807 [Peer Reviewed Journal]Copyright: © 2023 Muurling et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. ;COPYRIGHT 2023 Public Library of Science ;2023 Muurling 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. ;2023 Muurling et al 2023 Muurling et al ;2023 Muurling 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. ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0285807 ;PMID: 37418385Full text available |
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Material Type: Article
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Revertant Mosaicism in Genodermatoses: Natural Gene Therapy Right before Your EyesBiomedicines, 2022-08, Vol.10 (9), p.2118 [Peer Reviewed Journal]COPYRIGHT 2022 MDPI AG ;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: 2227-9059 ;EISSN: 2227-9059 ;DOI: 10.3390/biomedicines10092118Full text available |
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Material Type: Article
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High-efficiency RNA-based reprogramming of human primary fibroblastsNature communications, 2018-02, Vol.9 (1), p.745-15, Article 745 [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. ;The Author(s) 2018 ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-018-03190-3 ;PMID: 29467427Full text available |
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Material Type: Article
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Induced pluripotent stem cells from human revertant keratinocytes for the treatment of epidermolysis bullosaScience translational medicine, 2014-11, Vol.6 (264), p.264ra164 [Peer Reviewed Journal]Copyright © 2014, American Association for the Advancement of Science. ;EISSN: 1946-6242 ;DOI: 10.1126/scitranslmed.3009342 ;PMID: 25429057Digital Resources/Online E-Resources |
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Material Type: Article
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Strategic recommendations from the STARS project to foster academic drug developmentNature reviews. Drug discovery, 2023-04, Vol.22 (4), p.251-252 [Peer Reviewed Journal]Springer Nature Limited 2023. ;ISSN: 1474-1776 ;EISSN: 1474-1784 ;DOI: 10.1038/d41573-023-00021-z ;PMID: 36755155Full text available |
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Material Type: Article
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Natural Gene Therapy May Occur in All Patients with Generalized Non-Herlitz Junctional Epidermolysis Bullosa with COL17A1 MutationsJournal of investigative dermatology, 2012-05, Vol.132 (5), p.1374-1383 [Peer Reviewed Journal]2012 The Society for Investigative Dermatology, Inc ;2015 INIST-CNRS ;Copyright Nature Publishing Group May 2012 ;ISSN: 0022-202X ;EISSN: 1523-1747 ;DOI: 10.1038/jid.2011.477 ;PMID: 22318390 ;CODEN: JIDEAEFull text available |
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Material Type: Article
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Correction: Ethical challenges of using remote monitoring technologies for clinical research: A case study of the role of local research ethics committees in the RADAR-AD studyPloS one, 2023-11, Vol.18 (11), p.e0294797-e0294797 [Peer Reviewed Journal]COPYRIGHT 2023 Public Library of Science ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0294797Full text available |
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Material Type: Article
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Association of Epidermolysis Bullosa Simplex With Mottled Pigmentation and EXPH5 MutationsJAMA dermatology (Chicago, Ill.), 2016-10, Vol.152 (10), p.1137 [Peer Reviewed Journal]EISSN: 2168-6084 ;DOI: 10.1001/jamadermatol.2016.2268 ;PMID: 27384765Digital Resources/Online E-Resources |
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Material Type: Article
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Access to medicines for rare diseases: A European regulatory roadmap for academiaFrontiers in pharmacology, 2023-02, Vol.14, p.1142351-1142351 [Peer Reviewed Journal]Copyright © 2023 Rosenberg, van den Berg, Stolwijk, Jacobs, Post, Pasmooij, de Visser and Hollak. ;Copyright © 2023 Rosenberg, van den Berg, Stolwijk, Jacobs, Post, Pasmooij, de Visser and Hollak. 2023 Rosenberg, van den Berg, Stolwijk, Jacobs, Post, Pasmooij, de Visser and Hollak ;ISSN: 1663-9812 ;EISSN: 1663-9812 ;DOI: 10.3389/fphar.2023.1142351 ;PMID: 36925633Full text available |
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Material Type: Article
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Orphan Medicinal Products for the Treatment of Pancreatic Cancer: Lessons Learned From Two Decades of Orphan DesignationFrontiers in oncology, 2021-12, Vol.11, p.809035-809035 [Peer Reviewed Journal]Copyright © 2021 Mulder, van Rossum, Mariz, Magrelli, de Boer, Pasmooij and Stoyanova-Beninska. ;Copyright © 2021 Mulder, van Rossum, Mariz, Magrelli, de Boer, Pasmooij and Stoyanova-Beninska 2021 Mulder, van Rossum, Mariz, Magrelli, de Boer, Pasmooij and Stoyanova-Beninska ;ISSN: 2234-943X ;EISSN: 2234-943X ;DOI: 10.3389/fonc.2021.809035 ;PMID: 34988030Full text available |
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Material Type: Article
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Evaluation of Companion Diagnostics in Scientific Advice and Drug Marketing Authorization Applications by the European Medicines AgencyFrontiers in medicine, 2022-05, Vol.9, p.893028-893028 [Peer Reviewed Journal]Copyright © 2022 Maliepaard, Nibi, Nibi and Pasmooij. ;Copyright © 2022 Maliepaard, Nibi, Nibi and Pasmooij. 2022 Maliepaard, Nibi, Nibi and Pasmooij ;ISSN: 2296-858X ;EISSN: 2296-858X ;DOI: 10.3389/fmed.2022.893028 ;PMID: 35602486Full text available |
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Material Type: Article
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The Use of Remote Monitoring Technologies: A Review of Recent Regulatory Scientific Advices, Qualification Opinions, and Qualification Advices Issued by the European Medicines AgencyFrontiers in medicine, 2021-07, Vol.8, p.619513-619513 [Peer Reviewed Journal]Copyright © 2021 Dekker, Stolk and Pasmooij. 2021 Dekker, Stolk and Pasmooij ;ISSN: 2296-858X ;EISSN: 2296-858X ;DOI: 10.3389/fmed.2021.619513 ;PMID: 34277648Full text available |
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Material Type: Article
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Heterozygosity for a Novel Missense Mutation in the ITGB4 Gene Associated With Autosomal Dominant Epidermolysis BullosaJAMA dermatology (Chicago, Ill.), 2016-05, Vol.152 (5), p.558 [Peer Reviewed Journal]EISSN: 2168-6084 ;DOI: 10.1001/jamadermatol.2015.5236 ;PMID: 26817667Digital Resources/Online E-Resources |
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Material Type: Article
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Revertant Mosaicism Due to a Second-Site Mutation in COL7A1 in a Patient with Recessive Dystrophic Epidermolysis BullosaJournal of investigative dermatology, 2010-10, Vol.130 (10), p.2407-2411 [Peer Reviewed Journal]2010 The Society for Investigative Dermatology, Inc ;2015 INIST-CNRS ;Copyright Nature Publishing Group Oct 2010 ;ISSN: 0022-202X ;EISSN: 1523-1747 ;DOI: 10.1038/jid.2010.163 ;PMID: 20574443 ;CODEN: JIDEAEFull text available |
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Material Type: Article
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A Comparison of Post-marketing Measures Imposed by Regulatory Agencies to Confirm the Tissue-Agnostic ApproachFrontiers in medicine, 2022-06, Vol.9, p.893400-893400 [Peer Reviewed Journal]Copyright © 2022 Mulder, van Stuijvenberg, van Hennik, Voest, Pasmooij, Stoyanova-Beninska and de Boer. 2022 Mulder, van Stuijvenberg, van Hennik, Voest, Pasmooij, Stoyanova-Beninska and de Boer ;ISSN: 2296-858X ;EISSN: 2296-858X ;DOI: 10.3389/fmed.2022.893400 ;PMID: 35775007Full text available |
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Material Type: Article
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Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplexHuman molecular genetics, 2015-06, Vol.24 (11), p.3155-3162 [Peer Reviewed Journal]The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com. ;ISSN: 0964-6906 ;EISSN: 1460-2083 ;DOI: 10.1093/hmg/ddv066 ;PMID: 25712130Full text available |
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Material Type: Article
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Revertant Mosaicism — Patchwork in the SkinThe New England journal of medicine, 2009-04, Vol.360 (16), p.1680-1682 [Peer Reviewed Journal]Copyright © 2009 Massachusetts Medical Society. All rights reserved. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMc0809896 ;PMID: 19369679 ;CODEN: NEJMAGFull text available |
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Material Type: Article
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Therapeutic Prospects of Exon Skipping for Epidermolysis BullosaInternational journal of molecular sciences, 2021-11, Vol.22 (22), p.12222 [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/ijms222212222 ;PMID: 34830104Full text available |
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Material Type: Article
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RNA-based therapies for genodermatosesExperimental dermatology, 2017-01, Vol.26 (1), p.3 [Peer Reviewed Journal]2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. ;EISSN: 1600-0625 ;DOI: 10.1111/exd.13141 ;PMID: 27376675Digital Resources/Online E-Resources |