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) Fang F and Dorota Piekutowska-Abramczuk and Holger Prokisch and Tsygankova P and Angela Pyle and Kei Murayama and von Kleist-Retzow J and Mandel H and Ban R and Husain Ra and Michael Wagner and Leiz S and Daniela Karall and Maja Hempel and van Coster R and Mirjana Gusic and Riccardo Berutti and Xu M and Dariusz Rokicki and Wilichowski E and Julien Gagneur and Ewa Pronicka and Konstantopoulou and Elżbieta Ciara and Buchner B and Deen D and Saskia B. Wortmann and Markus Schuelke and Thomas Klopstock and Robert Kopajtich and Akira Ohtake and Kotzaeridou U and Sarah L. Stenton and Frederic Tort and Robert McFarland and Peter Freisinger and Theresa Brunet and Daniele Ghezzi and Felix Distelmaier and Bader Alhaddad and Wolstein T and Antonia Ribes and Agnès Rötig and Munoz-Pujol G and Johannes A. Mayr and Yasushi Okazaki and Muller-Felber W and Olsen R and Stefan Kölker and Tobias B. Haack and Tim M. Strom and Robert W. Taylor and Verloo P and Shimura M and Charlotte L. Alston and Thomas Meitinger and Schiff M and Ardissone A and Costanza Lamperti and Michael Zech and Lim Az and Smirnov D and René Santer and Christine Makowski and Ivo Barić and Dominic Lenz and Yepez and Wolfgang Sperl,"Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes",,,Cold Spring Harbor Laboratory,2021-06-25,,,,https://cir.nii.ac.jp/crid/1870302167920552448,https://doi.org/10.1101/2021.06.21.21259171