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)
Haloom Rafehi and David J. Szmulewicz and Kate Pope and Mathew Wallis and John Christodoulou and Susan M. White and Martin B. Delatycki and Paul J. Lockhart and Melanie Bahlo,Rapid Diagnosis of Spinocerebellar Ataxia 36 in a <scp>Three‐Generation</scp> Family Using <scp>Short‐Read Whole‐Genome</scp> Sequencing Data,Movement Disorders,0885-3185,Wiley,2020-05-14,35,9,1675-1679,https://cir.nii.ac.jp/crid/1363670319287572992,https://doi.org/10.1002/mds.28105