1 Ocak 2019 Dergi makalesi Açık Erişim

Johnstone, Devon L.; Al-Shekaili, Hilal H.; Tarailo-Graovac, Maja; Wolf, Nicole I.; Ivy, Autumn S.; Demarest, Scott; Roussel, Yann; Ciapaite, Jolita; van Roermund, Carlo W. T.; Kernohan, Kristin D.; Kosuta, Ceres; Ban, Kevin; Ito, Yoko; McBride, Skye; Al-Thihli, Khalid; Abdelrahim, Rana A.; Koul, Roshan; Al Futaisi, Amna; Haaxma, Charlotte A.; Olson, Heather; Olson, Heather

BibTeX

@article{johnstone_devon_l_2019_69699,
  author       = {Johnstone, Devon L. and
                  Al-Shekaili, Hilal H. and
                  Tarailo-Graovac, Maja and
                  Wolf, Nicole I. and
                  Ivy, Autumn S. and
                  Demarest, Scott and
                  Roussel, Yann and
                  Ciapaite, Jolita and
                  van Roermund, Carlo W. T. and
                  Kernohan, Kristin D. and
                  Kosuta, Ceres and
                  Ban, Kevin and
                  Ito, Yoko and
                  McBride, Skye and
                  Al-Thihli, Khalid and
                  Abdelrahim, Rana A. and
                  Koul, Roshan and
                  Al Futaisi, Amna and
                  Haaxma, Charlotte A. and
                  Olson, Heather and
                  Olson, Heather},
  title        = {{PLPHP deficiency: clinical, genetic, biochemical, 
                   and mechanistic insights}},
  journal      = {BRAIN},
  year         = 2019,
  volume       = 142,
  pages        = {542-559},
  month        = jan,
}