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Mitsuko Nakashima

Showing results (151-160 of 208) with videos related to

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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.
Neurology|April 8, 2014
PIGA mutations cause early-onset epileptic encephalopathies and distinctive featuresMitsuhiro Kato, Hirotomo Saitsu, Yoshiko Murakami, et al.
Anticancer Research|May 1, 2007
LKB1 is crucial for TRAIL-mediated apoptosis induction in osteosarcomaShintaro Takeda, Atsushi Iwai, Mitsuko Nakashima, et al.
Human Mutation|February 24, 2017
Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndromeEri Imagawa, Ken Higashimoto, Yasunari Sakai, et al.
Human Mutation|January 3, 2013
Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensationNoriko Miyake, Shoji Yano, Chika Sakai, et al.
Clinical Genetics|October 4, 2018
GRIN2D variants in three cases of developmental and epileptic encephalopathyNaomi Tsuchida, Keisuke Hamada, Masaaki Shiina, et al.
Annals of Neurology|March 14, 2018
De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathyMitsuko Nakashima, Mitsuhiro Kato, Kazushi Aoto, et al.
Nature Communications|June 3, 2014
De novo SOX11 mutations cause Coffin-Siris syndromeYoshinori Tsurusaki, Eriko Koshimizu, Hirofumi Ohashi, et al.
Annals of Clinical and Translational Neurology|March 22, 2018
<i>De novo</i> variants in <i>CAMK2A</i> and <i>CAMK2B</i> cause neurodevelopmental disordersTenpei Akita, Kazushi Aoto, Mitsuhiro Kato, et al.
Brain & Development|November 19, 2019
Phenotype-genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasmsWakaba Endo, Satoru Ikemoto, Noriko Togashi, et al.
Pageof 21

Showing results (151-160 of 208) with videos related to

Sort By:
Pageof 21
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.
Neurology|April 8, 2014
PIGA mutations cause early-onset epileptic encephalopathies and distinctive featuresMitsuhiro Kato, Hirotomo Saitsu, Yoshiko Murakami, et al.
Anticancer Research|May 1, 2007
LKB1 is crucial for TRAIL-mediated apoptosis induction in osteosarcomaShintaro Takeda, Atsushi Iwai, Mitsuko Nakashima, et al.
Human Mutation|February 24, 2017
Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndromeEri Imagawa, Ken Higashimoto, Yasunari Sakai, et al.
Human Mutation|January 3, 2013
Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensationNoriko Miyake, Shoji Yano, Chika Sakai, et al.
Clinical Genetics|October 4, 2018
GRIN2D variants in three cases of developmental and epileptic encephalopathyNaomi Tsuchida, Keisuke Hamada, Masaaki Shiina, et al.
Annals of Neurology|March 14, 2018
De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathyMitsuko Nakashima, Mitsuhiro Kato, Kazushi Aoto, et al.
Nature Communications|June 3, 2014
De novo SOX11 mutations cause Coffin-Siris syndromeYoshinori Tsurusaki, Eriko Koshimizu, Hirofumi Ohashi, et al.
Annals of Clinical and Translational Neurology|March 22, 2018
<i>De novo</i> variants in <i>CAMK2A</i> and <i>CAMK2B</i> cause neurodevelopmental disordersTenpei Akita, Kazushi Aoto, Mitsuhiro Kato, et al.
Brain & Development|November 19, 2019
Phenotype-genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasmsWakaba Endo, Satoru Ikemoto, Noriko Togashi, et al.
Pageof 21