著者名,論文名,雑誌名,ISSN,出版者名,出版日付,巻,号,ページ,URL,URL(DOI)
Mitsuko Nakashima and Kyoko Takano and Hitoshi Osaka,Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss,Journal of human genetics,14345161,Tokyo : Springer Nature,2014-08,59,8,471-474,https://cir.nii.ac.jp/crid/1522262180035077632,