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)
Isabelle Perrault and Sophie Saunier and Sylvain Hanein and Emilie Filhol and Albane A. Bizet and Felicity Collins and Mustafa A.M. Salih and Sylvie Gerber and Nathalie Delphin and Karine Bigot and Christophe Orssaud and Eduardo Silva and Véronique Baudouin and Machteld M. Oud and Nora Shannon and Martine Le Merrer and Olivier Roche and Christine Pietrement and Jamal Goumid and Clarisse Baumann and Christine Bole-Feysot and Patrick Nitschke and Mohammed Zahrate and Philip Beales and Heleen H. Arts and Arnold Munnich and Josseline Kaplan and Corinne Antignac and Valérie Cormier-Daire and Jean-Michel Rozet,Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations,The American Journal of Human Genetics,0002-9297,Elsevier BV,2012-05,90,5,864-870,https://cir.nii.ac.jp/crid/1362262945574251392,https://doi.org/10.1016/j.ajhg.2012.03.006