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dc.contributor.authorSalmaninejad, Arash
dc.contributor.authorBedoni, Nicola
dc.contributor.authorRavesh, Zeinab
dc.contributor.authorQuinodoz, Mathieu
dc.contributor.authorShoeibi, Nasser
dc.contributor.authorMojarrad, Majid
dc.contributor.authorPasdar, Alireza
dc.contributor.authorRivolta, Carlo
dc.date.accessioned2021-01-25T17:48:00Z
dc.date.available2021-01-25T17:48:00Z
dc.date.issued2020-11-10
dc.identifier.citationSalmaninejad , A , Bedoni , N , Ravesh , Z , Quinodoz , M , Shoeibi , N , Mojarrad , M , Pasdar , A & Rivolta , C 2020 , ' Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies ' , Scientific Reports , vol. 10 , 19413 . https://doi.org/10.1038/s41598-020-75841-9en
dc.identifier.issn2045-2322
dc.identifier.otherPURE: 186295587
dc.identifier.otherPURE UUID: b37d912d-b103-48ed-aaf4-2c11a3530b08
dc.identifier.otherScopus: 85095722074
dc.identifier.otherPubMed: 33173045
dc.identifier.otherORCID: /0000-0002-7864-9729/work/88320239
dc.identifier.urihttps://hdl.handle.net/2164/15720
dc.descriptionAcknowledgements This research was funded by the Swiss National Science Foundation (Grant #176097 to CR). We would like to express gratitude to the patients and all their family members that participated in this study for their valuable cooperation and participation.en
dc.format.extent7
dc.language.isoeng
dc.relation.ispartofScientific Reportsen
dc.rightsThis 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.subjectGenetic variationen
dc.subjectGeneticsen
dc.subjectgenomeen
dc.subjectmedical geneticsen
dc.subjectMutationen
dc.subjectR Medicineen
dc.subjectSupplementary Dataen
dc.subject.lccRen
dc.titleWhole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with 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/s41598-020-75841-9
dc.identifier.urlhttp://www.scopus.com/inward/record.url?scp=85095722074&partnerID=8YFLogxKen


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