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)
C Thauvin‐Robinet and S Thomas and M Sinico and B Aral and L Burglen and N Gigot and H Dollfus and S Rossignol and M Raynaud and C Philippe and C Badens and R Touraine and C Gomes and B Franco and E Lopez and N Elkhartoufi and L Faivre and A Munnich and N Boddaert and L Van Maldergem and F Encha‐Razavi and S Lyonnet and M Vekemans and E Escudier and T Attié‐Bitach,<i><scp>OFD1</scp></i> mutations in males: phenotypic spectrum and ciliary basal body docking impairment,Clinical Genetics,0009-9163,Wiley,2012-10-04,84,1,86-90,https://cir.nii.ac.jp/crid/1363670320780206592,https://doi.org/10.1111/cge.12013