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)
Sébastien Küry and Thomas Besnard and Frédéric Ebstein and Tahir N. Khan and Tomasz Gambin and Jessica Douglas and Carlos A. Bacino and William J. Craigen and Stephan J. Sanders and Andrea Lehmann and Xénia Latypova and Kamal Khan and Mathilde Pacault and Stephanie Sacharow and Kimberly Glaser and Eric Bieth and Laurence Perrin-Sabourin and Marie-Line Jacquemont and Megan T. Cho and Elizabeth Roeder and Anne-Sophie Denommé-Pichon and Kristin G. Monaghan and Bo Yuan and Fan Xia and Sylvain Simon and Dominique Bonneau and Philippe Parent and Brigitte Gilbert-Dussardier and Sylvie Odent and Annick Toutain and Laurent Pasquier and Deborah Barbouth and Chad A. Shaw and Ankita Patel and Janice L. Smith and Weimin Bi and Sébastien Schmitt and Wallid Deb and Mathilde Nizon and Sandra Mercier and Marie Vincent and Caroline Rooryck and Valérie Malan and Ignacio Briceño and Alberto Gómez and Kimberly M. Nugent and James B. Gibson and Benjamin Cogné and James R. Lupski and Holly A.F. Stessman and Evan E. Eichler and Kyle Retterer and Yaping Yang and Richard Redon and Nicholas Katsanis and Jill A. Rosenfeld and Peter-Michael Kloetzel and Christelle Golzio and Stéphane Bézieau and Paweł Stankiewicz and Bertrand Isidor,De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder,The American Journal of Human Genetics,0002-9297,Elsevier BV,2017-02,100,2,352-363,https://cir.nii.ac.jp/crid/1363670320934436992,https://doi.org/10.1016/j.ajhg.2017.01.003