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Brain & Development|September 17, 2017
Japanese Leigh syndrome case treated with EPI-743Takeshi Kouga, Mariko Takagi, Akihiko Miyauchi, et al.Journal of Human Genetics|March 8, 2013
Molecular analysis of the genes causing recessive demyelinating Charcot-Marie-Tooth disease in JapanMakiko Hayashi, Akiko Abe, Tatsufumi Murakami, et al.Brain & Development|September 15, 2018
Aggregate formation analysis of GFAPJanyerkye Tulyeu, Moe Tamaura, Eriko Jimbo, et al.Epilepsy & Behavior Reports|December 28, 2019
Epilepsy in Christianson syndrome: Two cases of Lennox-Gastaut syndrome and a review of literatureAzusa Ikeda, Ayako Yamamoto, Kazushi Ichikawa, et al.Congenital Anomalies|May 30, 2012
Spastic quadriplegia in Down syndrome with congenital duodenal stenosis/atresiaKenji Kurosawa, Keisuke Enomoto, Makiko Tominaga, et al.Molecular Genetics and Metabolism Reports|November 30, 2016
A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndromeHiroko Shimbo, Mariko Takagi, Mitsuko Okuda, et al.Brain & Development|March 14, 2012
Two Japanese patients with Leigh syndrome caused by novel SURF1 mutationsJunpei Tanigawa, Kaori Kaneko, Masakazu Honda, et al.Brain & Development|December 3, 2014
A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathyKyoko Takano, Yu Tsuyusaki, Mutsumi Sato, et al.Brain & Development|September 19, 2013
Urine screening for patients with developmental disabilities detected a patient with creatine transporter deficiency due to a novel missense mutation in SLC6A8Hidekazu Kato, Fuyu Miyake, Hiroko Shimbo, et al.Epilepsy Research|May 18, 2007
Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variationHitoshi Osaka, Ikuo Ogiwara, Emi Mazaki, et al.Pageof 4