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)
"的場, 健人 and 千原, 典夫 and 佐竹, 渉 and Tokuoka, Hideki and Otsuka, Yoshihisa and 上田, 健博 and 関口, 兼司 and Itoh, Masayuki and 松本, 理器",Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous <i>CPLANE1</i> Variant,Neurology Genetics,2376-7839,Wolters Kluwer Health,2022-10,8,5,e200031,https://cir.nii.ac.jp/crid/1050012570395503104,https://doi.org/10.1212/nxg.0000000000200031