Identification of the post-zygotic mosaic nonsense mutation in WDR45gene leading to beta-propeller protein-associated neurodegeneration and defining sex chromosomal mosaicism at whole exome sequencing

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dc.authoridZeliha Görmez / 0000-0001-9519-2647
dc.authorscopusidZeliha Görmez / 26025606000
dc.authorwosidZeliha Görmez / A-9557-2013
dc.contributor.authorAkcakaya, Nihan Hande
dc.contributor.authorSalman, Barış
dc.contributor.authorArgüden, Yelda Tarkan
dc.contributor.authorGörmez, Zeliha
dc.contributor.authorDönmez, R.
dc.contributor.authorÇolakoğlu, Berril Dönmez
dc.contributor.authorYapıcı, Zuhal
dc.contributor.authorHacıhanefioğlu, Seniha
dc.contributor.authorÖzbek, Uğur
dc.contributor.authorİşeri, Sibel Aylin Uğur
dc.date.accessioned2020-08-30T20:06:42Z
dc.date.available2020-08-30T20:06:42Z
dc.date.issued2019
dc.departmentİstinye Üniversitesi, Mühendislik ve Doğa Bilimleri Fakültesi, Yazılım Mühendisliği Bölümüen_US
dc.descriptionGörmez, Zeliha (isu author)
dc.description51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG) -- JUN 16-19, 2018 -- Milan, ITALYen_US
dc.description.abstract[No Abstract Available]en_US
dc.description.sponsorshipEuropean Soc Human Geneten_US
dc.description.sponsorshipScientific Research Projects Coordination Unit of Istanbul UniversityIstanbul University [26646]en_US
dc.description.sponsorshipThis work was supported by grants from the Scientific Research Projects Coordination Unit of Istanbul University, Project Number 26646.en_US
dc.identifier.citationAkcakaya, N. H., Salman, B., Arguden, Y. T., Gormez, Z., Donmez, R., Colakoglu, B., & Iseri, S. A. (2019). Identification of the post-zygotic mosaic nonsense mutation in WDR45gene leading to beta-propeller protein-associated neurodegeneration and defining sex chromosomal mosaicism at whole exome sequencing.en_US
dc.identifier.endpage536en_US
dc.identifier.issn1018-4813en_US
dc.identifier.issn1476-5438en_US
dc.identifier.startpage535en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12713/598
dc.identifier.volume27en_US
dc.identifier.wosWOS:000489313104216en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.institutionauthorGörmez, Zelihaen_US
dc.language.isoenen_US
dc.publisherNature Publishing Groupen_US
dc.relation.ispartofEuropean Journal of Human Geneticsen_US
dc.relation.publicationcategoryKonferans Öğesi - Uluslararası - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.titleIdentification of the post-zygotic mosaic nonsense mutation in WDR45gene leading to beta-propeller protein-associated neurodegeneration and defining sex chromosomal mosaicism at whole exome sequencingen_US
dc.typeConference Objecten_US

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