Dergi makalesi Açık Erişim
Oktay, Y.; Gungor, S.; Hiz, S.; Yaramis, A.; Aranguren-Ibanez, A.; Yis, U.; Sonmezler, E.; Yilmaz, E.; Ekinci, B.; Aslan, M.; Balaraju, S.; Szabo, N.; Laurie, S.; Beltran, S.; Hathazi, D.; MacArthur, D.; Roos, A.; Lochmuller, H.; Vernos, I.; Horvath, R.
{ "URL": "https://aperta.ulakbim.gov.tr/record/4383", "abstract": "\u00d6z bulunamad\u0131.", "author": [ { "family": "Oktay", "given": " Y." }, { "family": "Gungor", "given": " S." }, { "family": "Hiz", "given": " S." }, { "family": "Yaramis", "given": " A." }, { "family": "Aranguren-Ibanez", "given": " A." }, { "family": "Yis", "given": " U." }, { "family": "Sonmezler", "given": " E." }, { "family": "Yilmaz", "given": " E." }, { "family": "Ekinci", "given": " B." }, { "family": "Aslan", "given": " M." }, { "family": "Balaraju", "given": " S." }, { "family": "Szabo", "given": " N." }, { "family": "Laurie", "given": " S." }, { "family": "Beltran", "given": " S." }, { "family": "Hathazi", "given": " D." }, { "family": "MacArthur", "given": " D." }, { "family": "Roos", "given": " A." }, { "family": "Lochmuller", "given": " H." }, { "family": "Vernos", "given": " I." }, { "family": "Horvath", "given": " R." } ], "container_title": "EUROPEAN JOURNAL OF HUMAN GENETICS", "id": "4383", "issue": "SUPPL 1", "issued": { "date-parts": [ [ 2020, 1, 1 ] ] }, "page": "460-461", "title": "A homozygous missense variant inTUBGCP2alter the g-tubulin ring complex leading to abnormal cortical development, pontocerebellar atrophy and altered myelination", "type": "article-journal", "volume": "28" }
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