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Mitsuhiro Kato

Showing results (111-120 of 238) with videos related to

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Epilepsy & Behavior Reports|January 25, 2021
Association of early-onset epileptic encephalopathy with involuntary movements - Case series and literature reviewAtsuko Arisaka, Mitsuko Nakashima, Satoko Kumada, et al.
Human Molecular Genetics|February 19, 2021
Limb-clasping, cognitive deficit and increased vulnerability to kainic acid-induced seizures in neuronal glycosylphosphatidylinositol deficiency mouse modelsLenin C Kandasamy, Mina Tsukamoto, Vitaliy Banov, et al.
American Journal of Medical Genetics. Part A|April 15, 2016
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndromeIkumi Hori, Fuyuki Miya, Kei Ohashi, et al.
Human Genetics|January 12, 2018
De novo variants in SETD1B are associated with intellectual disability, epilepsy and autismTakuya Hiraide, Mitsuko Nakashima, Kaori Yamoto, et al.
BMC Neurology|October 29, 2019
Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case reportKouhei Den, Yosuke Kudo, Mitsuhiro Kato, et al.
Human Genome Variation|June 23, 2023
The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticusYu Kobayashi, Jun Tohyama, Noriyuki Akasaka, et al.
Scientific Reports|March 20, 2015
A combination of targeted enrichment methodologies for whole-exome sequencing reveals novel pathogenic mutationsFuyuki Miya, Mitsuhiro Kato, Tadashi Shiohama, et al.
Journal of Human Genetics|June 17, 2018
A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndromeIkumi Hori, Fuyuki Miya, Yutaka Negishi, et al.
American Journal of Medical Genetics. Part A|April 25, 2012
The incidence of hypoplasia of the corpus callosum in patients with dup (X)(q28) involving MECP2 is associated with the location of distal breakpointsShozo Honda, Shin Hayashi, Takaya Nakane, et al.
Brain & Development|August 24, 2014
Efficacy of long term weekly ACTH therapy for intractable epilepsyTakehiko Inui, Tomoko Kobayashi, Satoru Kobayashi, et al.
Pageof 24

Showing results (111-120 of 238) with videos related to

Sort By:
Pageof 24
Epilepsy & Behavior Reports|January 25, 2021
Association of early-onset epileptic encephalopathy with involuntary movements - Case series and literature reviewAtsuko Arisaka, Mitsuko Nakashima, Satoko Kumada, et al.
Human Molecular Genetics|February 19, 2021
Limb-clasping, cognitive deficit and increased vulnerability to kainic acid-induced seizures in neuronal glycosylphosphatidylinositol deficiency mouse modelsLenin C Kandasamy, Mina Tsukamoto, Vitaliy Banov, et al.
American Journal of Medical Genetics. Part A|April 15, 2016
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndromeIkumi Hori, Fuyuki Miya, Kei Ohashi, et al.
Human Genetics|January 12, 2018
De novo variants in SETD1B are associated with intellectual disability, epilepsy and autismTakuya Hiraide, Mitsuko Nakashima, Kaori Yamoto, et al.
BMC Neurology|October 29, 2019
Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case reportKouhei Den, Yosuke Kudo, Mitsuhiro Kato, et al.
Human Genome Variation|June 23, 2023
The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticusYu Kobayashi, Jun Tohyama, Noriyuki Akasaka, et al.
Scientific Reports|March 20, 2015
A combination of targeted enrichment methodologies for whole-exome sequencing reveals novel pathogenic mutationsFuyuki Miya, Mitsuhiro Kato, Tadashi Shiohama, et al.
Journal of Human Genetics|June 17, 2018
A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndromeIkumi Hori, Fuyuki Miya, Yutaka Negishi, et al.
American Journal of Medical Genetics. Part A|April 25, 2012
The incidence of hypoplasia of the corpus callosum in patients with dup (X)(q28) involving MECP2 is associated with the location of distal breakpointsShozo Honda, Shin Hayashi, Takaya Nakane, et al.
Brain & Development|August 24, 2014
Efficacy of long term weekly ACTH therapy for intractable epilepsyTakehiko Inui, Tomoko Kobayashi, Satoru Kobayashi, et al.
Pageof 24