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Mitsuko Nakashima

Showing results (171-180 of 208) with videos related to

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Brain & Development|January 13, 2021
Clinical manifestations and epilepsy treatment in Japanese patients with pathogenic CDKL5 variantsYu Kobayashi, Jun Tohyama, Yukitoshi Takahashi, et al.
Human Molecular Genetics|February 13, 2018
Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disordersTakeshi Mizuguchi, Mitsuko Nakashima, Mitsuhiro Kato, et al.
Epilepsia|February 27, 2016
De novo GABRA1 mutations in Ohtahara and West syndromesHirofumi Kodera, Chihiro Ohba, Mitsuhiro Kato, et al.
Epilepsia|July 4, 2015
De novo KCNT1 mutations in early-onset epileptic encephalopathyChihiro Ohba, Mitsuhiro Kato, Nobuya Takahashi, et al.
Epilepsia|June 4, 2014
Early onset epileptic encephalopathy caused by de novo SCN8A mutationsChihiro Ohba, Mitsuhiro Kato, Satoru Takahashi, et al.
American Journal of Human Genetics|December 27, 2016
Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline MyopathySatoko Miyatake, Satomi Mitsuhashi, Yukiko K Hayashi, et al.
Human Molecular Genetics|April 16, 2019
MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics considerationKohei Hamanaka, Atsushi Takata, Yuri Uchiyama, et al.
American Journal of Human Genetics|March 22, 2016
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and HypotoniaPeriklis Makrythanasis, Mitsuhiro Kato, Maha S Zaki, et al.
Nature Communications|April 9, 2021
ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H<sup>+</sup>-ATPases is essential for brain development in humans and miceKazushi Aoto, Mitsuhiro Kato, Tenpei Akita, et al.
American Journal of Human Genetics|March 15, 2020
De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic EpilepsyKohei Hamanaka, Eri Imagawa, Eriko Koshimizu, et al.
Pageof 21

Showing results (171-180 of 208) with videos related to

Sort By:
Pageof 21
Brain & Development|January 13, 2021
Clinical manifestations and epilepsy treatment in Japanese patients with pathogenic CDKL5 variantsYu Kobayashi, Jun Tohyama, Yukitoshi Takahashi, et al.
Human Molecular Genetics|February 13, 2018
Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disordersTakeshi Mizuguchi, Mitsuko Nakashima, Mitsuhiro Kato, et al.
Epilepsia|February 27, 2016
De novo GABRA1 mutations in Ohtahara and West syndromesHirofumi Kodera, Chihiro Ohba, Mitsuhiro Kato, et al.
Epilepsia|July 4, 2015
De novo KCNT1 mutations in early-onset epileptic encephalopathyChihiro Ohba, Mitsuhiro Kato, Nobuya Takahashi, et al.
Epilepsia|June 4, 2014
Early onset epileptic encephalopathy caused by de novo SCN8A mutationsChihiro Ohba, Mitsuhiro Kato, Satoru Takahashi, et al.
American Journal of Human Genetics|December 27, 2016
Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline MyopathySatoko Miyatake, Satomi Mitsuhashi, Yukiko K Hayashi, et al.
Human Molecular Genetics|April 16, 2019
MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics considerationKohei Hamanaka, Atsushi Takata, Yuri Uchiyama, et al.
American Journal of Human Genetics|March 22, 2016
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and HypotoniaPeriklis Makrythanasis, Mitsuhiro Kato, Maha S Zaki, et al.
Nature Communications|April 9, 2021
ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H<sup>+</sup>-ATPases is essential for brain development in humans and miceKazushi Aoto, Mitsuhiro Kato, Tenpei Akita, et al.
American Journal of Human Genetics|March 15, 2020
De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic EpilepsyKohei Hamanaka, Eri Imagawa, Eriko Koshimizu, et al.
Pageof 21