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.

BibTeX

@article{oktay_y_2020_4383,
  author       = {Oktay, Y. and
                  Gungor, S. and
                  Hiz, S. and
                  Yaramis, A. and
                  Aranguren-Ibanez, A. and
                  Yis, U. and
                  Sonmezler, E. and
                  Yilmaz, E. and
                  Ekinci, B. and
                  Aslan, M. and
                  Balaraju, S. and
                  Szabo, N. and
                  Laurie, S. and
                  Beltran, S. and
                  Hathazi, D. and
                  MacArthur, D. and
                  Roos, A. and
                  Lochmuller, H. and
                  Vernos, I. and
                  Horvath, R.},
  title        = {{A homozygous missense variant inTUBGCP2alter the 
                   g-tubulin ring complex leading to abnormal
                   cortical development, pontocerebellar atrophy and
                   altered myelination}},
  journal      = {EUROPEAN JOURNAL OF HUMAN GENETICS},
  year         = 2020,
  volume       = 28,
  number       = {SUPPL 1},
  pages        = {460-461},
  month        = jan,
}