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)
Fan Xia and Matthew N. Bainbridge and Tiong Yang Tan and Michael F. Wangler and Angela E. Scheuerle and Elaine H. Zackai and Margaret H. Harr and V. Reid Sutton and Roopa L. Nalam and Wenmiao Zhu and Margot Nash and Monique M. Ryan and Joy Yaplito-Lee and Jill V. Hunter and Matthew A. Deardorff and Samantha J. Penney and Arthur L. Beaudet and Sharon E. Plon and Eric A. Boerwinkle and James R. Lupski and Christine M. Eng and Donna M. Muzny and Yaping Yang and Richard A. Gibbs,"De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea",The American Journal of Human Genetics,0002-9297,Elsevier BV,2014-05,94,5,784-789,https://cir.nii.ac.jp/crid/1360298764831412096,https://doi.org/10.1016/j.ajhg.2014.04.006