1 Ocak 2020 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.

Citation Style Language JSON

{
  "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"
}