Author,Title,Journal,ISSN,Publisher,Date,Volume,Number,Page,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 novel<i>DEAF1</i>variants identified through clinical exome sequencing expands<i>DEAF1</i>-associated neurodevelopmental disorder (DAND) phenotype,Human Mutation,1059-7794,Wiley,2017-09-23,38,12,1774-1785,https://cir.nii.ac.jp/crid/1363670321017989376,https://doi.org/10.1002/humu.23339