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Mitsuko Nakashima

Showing results (161-170 of 208) with videos related to

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Journal of Human Genetics|September 28, 2018
Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomaticKohei Hamanaka, Satoko Miyatake, Ayelet Zerem, et al.
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.
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.
Neoplasia (New York, N.Y.)|May 22, 2025
Immunohistochemical and molecular evolutionary features of jejunoileal adenocarcinoma unveiled through comparative analysis with colorectal adenocarcinomaRei Ishikawa, Hidetaka Yamada, Hirotomo Saitsu, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 24, 2018
RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathyKohei Hamanaka, Satoko Miyatake, Eriko Koshimizu, et al.
European Journal of Human Genetics : EJHG|May 14, 2015
Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delayHirotomo Saitsu, Ryoko Fukai, Bruria Ben-Zeev, et al.
Pageof 21

Showing results (161-170 of 208) with videos related to

Sort By:
Pageof 21
Journal of Human Genetics|September 28, 2018
Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomaticKohei Hamanaka, Satoko Miyatake, Ayelet Zerem, et al.
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.
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.
Neoplasia (New York, N.Y.)|May 22, 2025
Immunohistochemical and molecular evolutionary features of jejunoileal adenocarcinoma unveiled through comparative analysis with colorectal adenocarcinomaRei Ishikawa, Hidetaka Yamada, Hirotomo Saitsu, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 24, 2018
RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathyKohei Hamanaka, Satoko Miyatake, Eriko Koshimizu, et al.
European Journal of Human Genetics : EJHG|May 14, 2015
Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delayHirotomo Saitsu, Ryoko Fukai, Bruria Ben-Zeev, et al.
Pageof 21