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  4. Τμήμα Ιατρικής
  5. Άρθρα σε επιστημονικά περιοδικά ( Ανοικτά) - ΙΑΤ
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Please use this identifier to cite or link to this item: https://olympias.lib.uoi.gr/jspui/handle/123456789/19915
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dc.contributor.authorTzoufi, M.en
dc.contributor.authorKanioglou, C.en
dc.contributor.authorDasoula, A.en
dc.contributor.authorAsproudis, I.en
dc.contributor.authorTsatsoulis, A.en
dc.contributor.authorSismani, C.en
dc.contributor.authorPatsalis, P. C.en
dc.contributor.authorGeorgiou, I.en
dc.contributor.authorSyrrou, M.en
dc.date.accessioned2015-11-24T19:03:35Z-
dc.date.available2015-11-24T19:03:35Z-
dc.identifier.issn0883-0738-
dc.identifier.urihttps://olympias.lib.uoi.gr/jspui/handle/123456789/19915-
dc.rightsDefault Licence-
dc.subjectAbnormalities, Multiple/geneticsen
dc.subjectAdolescenten
dc.subjectAdulten
dc.subjectChilden
dc.subjectChild, Preschoolen
dc.subject*Chromosomes, Human, Pair 14en
dc.subjectDiabetes Mellitus, Type 2/complications/geneticsen
dc.subjectEpilepsy/complications/*geneticsen
dc.subjectHumansen
dc.subjectIntellectual Disability/complications/*geneticsen
dc.subjectMaleen
dc.subject*Mosaicismen
dc.subjectPhenotypeen
dc.subject*Ring Chromosomesen
dc.subjectTrisomy/*geneticsen
dc.titleMosaic trisomy r(14) associated with epilepsy and mental retardationen
heal.typejournalArticle-
heal.type.enJournal articleen
heal.type.elΆρθρο Περιοδικούel
heal.identifier.primary10.1177/0883073807304196-
heal.identifier.secondaryhttp://www.ncbi.nlm.nih.gov/pubmed/17715281-
heal.identifier.secondaryhttp://jcn.sagepub.com/content/22/7/869.full.pdf-
heal.languageen-
heal.accesscampus-
heal.recordProviderΠανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικήςel
heal.publicationDate2007-
heal.abstractWe report a patient with moderate mental retardation, benign clinical course of epilepsy, and type 2 diabetes mellitus. The patient has a mosaic karyotype with 2 cell lines: 1 with a ring chromosome 14 [r(14)], and 1 with an apparently duplicated r(14) chromosome.en
heal.journalNameJ Child Neurolen
heal.journalTypepeer-reviewed-
heal.fullTextAvailabilityTRUE-
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