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The genetic basis of DOORS syndrome: an exome-sequencing study

dc.contributor.authorDe Bie, Isabelle
dc.contributor.authorMeenakshi, Girish
dc.contributor.authorMurray, Mitzi L.
dc.contributor.authorRepetto, Gabriela M.
dc.contributor.authorFelix, Temis Maria
dc.contributor.authorvan den Ende, Jenneke
dc.contributor.authorWisniewska, Marzena
dc.contributor.authorRump, Patrick
dc.contributor.authorNampoothiri, Sheela
dc.contributor.authorAftimos, Salim
dc.contributor.authorMey, Antje
dc.contributor.authorNair, Lal D. V.
dc.contributor.authorBegleiter, Michael L.
dc.contributor.authorGolabi, Mahin
dc.contributor.authorBlair, Edward
dc.contributor.authorMale, Alison
dc.contributor.authorGiuliano, Fabienne
dc.contributor.authorKariminejad, Ariana
dc.contributor.authorNewman, William G.
dc.contributor.authorBhaskar, Sanjeev S.
dc.contributor.authorDickerson, Jonathan E.
dc.contributor.authorKerr, Bronwyn
dc.contributor.authorBanka, Siddharth
dc.contributor.authorGiltay, Jacques C.
dc.contributor.authorWieczorek, Dagmar
dc.contributor.authorTostevin, Anna
dc.contributor.authorWiszniewska, Joanna
dc.contributor.authorCheung, Sau Wai
dc.contributor.authorHennekam, Raoul C.
dc.contributor.authorGibbs, Richard A.
dc.contributor.authorLee, Brendan H.
dc.contributor.authorSisodiya, Sanjay M.
dc.contributor.authorKayserili, Hülya
dc.contributor.authorStewart, Fiona
dc.contributor.authorCampeau, Philippe M.
dc.contributor.authorKasperaviciute, Dalia
dc.contributor.authorLu, James T.
dc.contributor.authorBurrage, Lindsay C.
dc.contributor.authorKim, Choel
dc.contributor.authorHori, Mutsuki
dc.contributor.authorPowell, Berkley R.
dc.date.accessioned2021-03-05T21:38:35Z
dc.date.available2021-03-05T21:38:35Z
dc.date.issued2014
dc.identifier.citationCampeau P. M. , Kasperaviciute D., Lu J. T. , Burrage L. C. , Kim C., Hori M., Powell B. R. , Stewart F., Felix T. M. , van den Ende J., et al., "The genetic basis of DOORS syndrome: an exome-sequencing study", LANCET NEUROLOGY, cilt.13, ss.44-58, 2014
dc.identifier.issn1474-4422
dc.identifier.othervv_1032021
dc.identifier.otherav_d9eb31b4-d3f7-4fd0-b3f4-6fc51ef1a60d
dc.identifier.urihttp://hdl.handle.net/20.500.12627/143689
dc.identifier.urihttps://doi.org/10.1016/s1474-4422(13)70265-5
dc.description.abstractBackground Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome is a rare autosomal recessive disorder of unknown cause. We aimed to identify the genetic basis of this syndrome by sequencing most coding exons in affected individuals.
dc.language.isoeng
dc.subjectDahili Tıp Bilimleri
dc.subjectSağlık Bilimleri
dc.subjectNöroloji
dc.subjectKlinik Tıp (MED)
dc.subjectTıp
dc.subjectKLİNİK NEUROLOJİ
dc.subjectKlinik Tıp
dc.titleThe genetic basis of DOORS syndrome: an exome-sequencing study
dc.typeMakale
dc.relation.journalLANCET NEUROLOGY
dc.contributor.department, ,
dc.identifier.volume13
dc.identifier.issue1
dc.identifier.startpage44
dc.identifier.endpage58
dc.contributor.firstauthorID31760


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