@article{oai:nagasaki-u.repo.nii.ac.jp:00021539, author = {Miyake, Noriko and Harada, Naoki and Okamoto, Nobuhiko and Sonoda, Tohru and Naritomi, Kenji and Chinen, Yasutsugu and Kaname, Tadashi and Tonoki, Hidefumi and Kondoh, Tatsuro and Kurosawa, Kenji and Visser, Remco and Kinoshita, Akira and Yoshiura, Ko-ichiro and Niikawa, Norio and Matsumoto, Naomichi}, issue = {1}, journal = {American journal of medical genetics. Part A.}, month = {May}, note = {American Journal of Medical Genetics, 135A(1), pp.103-105; 2005}, pages = {103--105}, title = {Four Novel NIPBL Mutations in Japanese Patients With Cornelia de Lange Syndrome}, volume = {135}, year = {2005} }