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Jun Tohyama

Showing results (91-100 of 102) with videos related to

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Scientific Reports|June 16, 2017
Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvementIkumi Hori, Takanobu Otomo, Mitsuko Nakashima, et al.
Epilepsia|May 14, 2013
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathyHirofumi Kodera, Mitsuhiro Kato, Alex S Nord, et al.
Human Mutation|November 1, 2020
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathyToshiyuki Itai, Kohei Hamanaka, Kazunori Sasaki, et al.
Neurology|August 13, 2013
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndromeKazuyuki Nakamura, Mitsuhiro Kato, Hitoshi Osaka, et al.
Acta Neuropathologica Communications|March 2, 2023
An integrated genetic analysis of epileptogenic brain malformed lesionsAtsushi Fujita, Mitsuhiro Kato, Hidenori Sugano, et al.
Cell Reports|January 19, 2018
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum DisorderAtsushi Takata, Noriko Miyake, Yoshinori Tsurusaki, et al.
American Journal of Human Genetics|July 8, 2023
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegenerationAnnalisa Vetro, Cristiana Pelorosso, Simona Balestrini, et al.
Brain : a Journal of Neurology|October 21, 2017
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophySteffen Syrbe, Frederike L Harms, Elena Parrini, et al.
European Journal of Human Genetics : EJHG|March 27, 2023
Molecular diagnosis of 405 individuals with autism spectrum disorderNoriko Miyake, Yoshinori Tsurusaki, Ryoko Fukai, 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.
Pageof 11

Showing results (91-100 of 102) with videos related to

Sort By:
Pageof 11
Scientific Reports|June 16, 2017
Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvementIkumi Hori, Takanobu Otomo, Mitsuko Nakashima, et al.
Epilepsia|May 14, 2013
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathyHirofumi Kodera, Mitsuhiro Kato, Alex S Nord, et al.
Human Mutation|November 1, 2020
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathyToshiyuki Itai, Kohei Hamanaka, Kazunori Sasaki, et al.
Neurology|August 13, 2013
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndromeKazuyuki Nakamura, Mitsuhiro Kato, Hitoshi Osaka, et al.
Acta Neuropathologica Communications|March 2, 2023
An integrated genetic analysis of epileptogenic brain malformed lesionsAtsushi Fujita, Mitsuhiro Kato, Hidenori Sugano, et al.
Cell Reports|January 19, 2018
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum DisorderAtsushi Takata, Noriko Miyake, Yoshinori Tsurusaki, et al.
American Journal of Human Genetics|July 8, 2023
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegenerationAnnalisa Vetro, Cristiana Pelorosso, Simona Balestrini, et al.
Brain : a Journal of Neurology|October 21, 2017
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophySteffen Syrbe, Frederike L Harms, Elena Parrini, et al.
European Journal of Human Genetics : EJHG|March 27, 2023
Molecular diagnosis of 405 individuals with autism spectrum disorderNoriko Miyake, Yoshinori Tsurusaki, Ryoko Fukai, 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.
Pageof 11