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)
Li Chen and Philip J. Jensik and Joseph T. Alaimo and Magdalena Walkiewicz and Seth Berger and Elizabeth Roeder and Eissa A. Faqeih and Jonathan A. Bernstein and Ann C. M. Smith and Sureni V. Mullegama and David W. Saffen and Sarah H. Elsea,Functional analysis of novelDEAF1variants identified through clinical exome sequencing expandsDEAF1-associated neurodevelopmental disorder (DAND) phenotype,Human Mutation,1059-7794,Hindawi Limited,2017-09-23,38,12,1774-1785,https://cir.nii.ac.jp/crid/1363670321017989376,https://doi.org/10.1002/humu.23339