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Mitsuhiro Kato

Showing results (161-170 of 238) with videos related to

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Annals of Neurology|May 29, 2015
Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIbMitsuko Nakashima, Hirotomo Saitsu, Nobuyuki Takei, 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.
European Journal of Human Genetics : EJHG|November 30, 2018
De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomaliesKohei Hamanaka, Yuji Sugawara, Takeyoshi Shimoji, et al.
Nature Genetics|February 26, 2013
De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthoodHirotomo Saitsu, Taki Nishimura, Kazuhiro Muramatsu, et al.
Human Genetics|January 15, 2022
Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variantKohei Hamanaka, Keita Miyoshi, Jia-Hui Sun, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|March 4, 2025
Expert opinions on pediatric EEG training for non-epilepsy specialists in sub-Saharan AfricaVeena Kander, Kette D Valente, Jaime Carrizosa, et al.
Epilepsia|April 14, 2015
GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disordersChihiro Ohba, Masaaki Shiina, Jun Tohyama, et al.
Journal of Human Genetics|May 7, 2021
Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomaliesSachiko Miyamoto, Mitsuhiro Kato, Takuya Hiraide, et al.
Epilepsia|February 27, 2016
De novo GABRA1 mutations in Ohtahara and West syndromesHirofumi Kodera, Chihiro Ohba, Mitsuhiro Kato, et al.
BMC Medical Genetics|January 15, 2017
A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephalyYutaka Negishi, Fuyuki Miya, Ayako Hattori, et al.
Pageof 24

Showing results (161-170 of 238) with videos related to

Sort By:
Pageof 24
Annals of Neurology|May 29, 2015
Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIbMitsuko Nakashima, Hirotomo Saitsu, Nobuyuki Takei, 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.
European Journal of Human Genetics : EJHG|November 30, 2018
De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomaliesKohei Hamanaka, Yuji Sugawara, Takeyoshi Shimoji, et al.
Nature Genetics|February 26, 2013
De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthoodHirotomo Saitsu, Taki Nishimura, Kazuhiro Muramatsu, et al.
Human Genetics|January 15, 2022
Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variantKohei Hamanaka, Keita Miyoshi, Jia-Hui Sun, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|March 4, 2025
Expert opinions on pediatric EEG training for non-epilepsy specialists in sub-Saharan AfricaVeena Kander, Kette D Valente, Jaime Carrizosa, et al.
Epilepsia|April 14, 2015
GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disordersChihiro Ohba, Masaaki Shiina, Jun Tohyama, et al.
Journal of Human Genetics|May 7, 2021
Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomaliesSachiko Miyamoto, Mitsuhiro Kato, Takuya Hiraide, et al.
Epilepsia|February 27, 2016
De novo GABRA1 mutations in Ohtahara and West syndromesHirofumi Kodera, Chihiro Ohba, Mitsuhiro Kato, et al.
BMC Medical Genetics|January 15, 2017
A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephalyYutaka Negishi, Fuyuki Miya, Ayako Hattori, et al.
Pageof 24