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dc.contributor.authorRehman, Atta Ur
dc.contributor.authorSepahi, Neda
dc.contributor.authorBedoni, Nicola
dc.contributor.authorRavesh, Zeinab
dc.contributor.authorSalmaninejad, Arash
dc.contributor.authorCancellieri, Francesca
dc.contributor.authorPeter, Virginie G.
dc.contributor.authorQuinodoz, Mathieu
dc.contributor.authorMojarrad, Majid
dc.contributor.authorPasdar, Alireza
dc.contributor.authorAsad, Ali Ghanbari
dc.contributor.authorGhalamkari, Saman
dc.contributor.authorPiran, Mehran
dc.contributor.authorPiran, Mehrdad
dc.contributor.authorSuperti-Furga, Andrea
dc.contributor.authorRivolta, Carlo
dc.date.accessioned2021-11-02T14:38:00Z
dc.date.available2021-11-02T14:38:00Z
dc.date.issued2021-12-01
dc.identifier.citationRehman , A U , Sepahi , N , Bedoni , N , Ravesh , Z , Salmaninejad , A , Cancellieri , F , Peter , V G , Quinodoz , M , Mojarrad , M , Pasdar , A , Asad , A G , Ghalamkari , S , Piran , M , Piran , M , Superti-Furga , A & Rivolta , C 2021 , ' Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies ' , Scientific Reports , vol. 11 , no. 1 , 19332 . https://doi.org/10.1038/s41598-021-98677-3en
dc.identifier.issn2045-2322
dc.identifier.otherPURE: 207971027
dc.identifier.otherPURE UUID: 191b485c-4bbc-47c2-9157-daca15bee42f
dc.identifier.otherScopus: 85116346473
dc.identifier.otherPubMed: 34588515
dc.identifier.otherORCID: /0000-0002-7864-9729/work/102536735
dc.identifier.otherWOS: 000702152400010
dc.identifier.urihttps://hdl.handle.net/2164/17431
dc.descriptionFunding Information: We would like to thank all of the participating families. We are also grateful to the Swiss Confederation for the award of a PhD fellowship to AUR, to Mashhad University of Medical Sciences for supporting part of the work, in the framework of the PhD thesis of AS, to the Swiss National Science Foundation for grant # 176097 to CR, and to the Fondation Guillaume Gentil for support to ASF.en
dc.format.extent9
dc.language.isoeng
dc.relation.ispartofScientific Reportsen
dc.rightsOpen Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.en
dc.subjectSDG 3 - Good Health and Well-beingen
dc.subjectR Medicine (General)en
dc.subjectGeneralen
dc.subjectOtheren
dc.subject.lccR1en
dc.titleWhole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophiesen
dc.typeJournal articleen
dc.contributor.institutionUniversity of Aberdeen.Applied Medicineen
dc.description.statusPeer revieweden
dc.description.versionPublisher PDFen
dc.identifier.doihttps://doi.org/10.1038/s41598-021-98677-3
dc.identifier.urlhttp://www.scopus.com/inward/record.url?scp=85116346473&partnerID=8YFLogxKen
dc.identifier.vol11en
dc.identifier.iss1en


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