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A novel X-linked disorder with developmental delay and autistic features

dc.contributor.authorGunoz, Hulya
dc.contributor.authorDervent, Aysin
dc.contributor.authorKayaalp, Inci V.
dc.contributor.authorKaya, Namik
dc.contributor.authorColak, Dilek
dc.contributor.authorAlbakheet, Albandary
dc.contributor.authorAl-Owain, Mohammad
dc.contributor.authorAbu-Dheim, Nada
dc.contributor.authorAl-Younes, Banan
dc.contributor.authorAl-Zahrani, Jawaher
dc.contributor.authorMukaddes, Nahit M.
dc.contributor.authorAl-Dosari, Naji
dc.contributor.authorAl-Odaib, Ali
dc.contributor.authorAl-Sayed, Moeenaladin
dc.contributor.authorAl-Hassnan, Zuhair
dc.contributor.authorNester, Michael J.
dc.contributor.authorAl-Dosari, Mohammad
dc.contributor.authorAl-Dhalaan, Hesham
dc.contributor.authorChedrawi, Aziza
dc.contributor.authorKarakas, Bedri
dc.contributor.authorSakati, Nadia
dc.contributor.authorAlkuraya, Fowzan S.
dc.contributor.authorGascon, Generaso G.
dc.contributor.authorOzand, Pinar T.
dc.date.accessioned2021-03-04T08:47:08Z
dc.date.available2021-03-04T08:47:08Z
dc.date.issued2012
dc.identifier.citationKaya N., Colak D., Albakheet A., Al-Owain M., Abu-Dheim N., Al-Younes B., Al-Zahrani J., Mukaddes N. M. , Dervent A., Al-Dosari N., et al., "A novel X-linked disorder with developmental delay and autistic features", ANNALS OF NEUROLOGY, cilt.71, sa.4, ss.498-508, 2012
dc.identifier.issn0364-5134
dc.identifier.othervv_1032021
dc.identifier.otherav_65045e0e-2c22-4236-a7d8-db6815908fc1
dc.identifier.urihttp://hdl.handle.net/20.500.12627/70263
dc.identifier.urihttps://doi.org/10.1002/ana.22673
dc.description.abstractObjective: Genomic duplications that lead to autism and other human diseases are interesting pathological lesions since the underlying mechanism almost certainly involves dosage sensitive genes. We aim to understand a novel genomic disorder with profound phenotypic consequences, most notably global developmental delay, autism, psychosis, and anorexia nervosa.
dc.language.isoeng
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectNöroloji
dc.subjectYaşam Bilimleri
dc.subjectTemel Bilimler
dc.subjectKLİNİK NEUROLOJİ
dc.subjectKlinik Tıp
dc.subjectKlinik Tıp (MED)
dc.subjectNEUROSCIENCES
dc.subjectSinirbilim ve Davranış
dc.subjectTıp
dc.titleA novel X-linked disorder with developmental delay and autistic features
dc.typeMakale
dc.relation.journalANNALS OF NEUROLOGY
dc.contributor.departmentİstanbul Üniversitesi , ,
dc.identifier.volume71
dc.identifier.issue4
dc.identifier.startpage498
dc.identifier.endpage508
dc.contributor.firstauthorID204105


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