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Brain & Development|February 13, 2003
Molecular genetic study in Japanese patients with Alexander disease: a novel mutation, R79LNaohide Shiroma, Naomi Kanazawa, Zenichiro Kato, et al.Molecular Genetics and Metabolism|April 5, 2012
Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafnessHitoshi Osaka, Atsushi Takagi, Yu Tsuyusaki, et al.Journal of the Neurological Sciences|August 1, 2020
De novo CACNA1G variants in developmental delay and early-onset epileptic encephalopathiesMisako Kunii, Hiroshi Doi, Shunta Hashiguchi, et al.Neurology|April 8, 2014
PIGA mutations cause early-onset epileptic encephalopathies and distinctive featuresMitsuhiro Kato, Hirotomo Saitsu, Yoshiko Murakami, et al.Neurogenetics|October 5, 2013
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhoodChihiro Ohba, Hitoshi Osaka, Mizue Iai, et al.Human Mutation|October 12, 2013
De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathyHirofumi Kodera, Kazuyuki Nakamura, Hitoshi Osaka, et al.Human Molecular Genetics|August 4, 2021
De novo ARF3 variants cause neurodevelopmental disorder with brain abnormalityMasamune Sakamoto, Kazunori Sasaki, Atsushi Sugie, et al.Nature Communications|June 9, 2019
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathyAtsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 28, 2022
Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophyMasamune Sakamoto, Kazuhiro Iwama, Masayuki Sasaki, et al.Pageof 4