@article{oai:twinkle.repo.nii.ac.jp:00025284, author = {SHIMOJIMA, Keiko and NARITA, Aya and MAEGAKI, Yoshihiro and SAITO, Akira and FURUKAWA, Toru and YAMAMOTO, Toshiyuki}, journal = {BMC Research Notes}, month = {}, title = {Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report}, volume = {7}, year = {2014} }