Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Mitsuhiro Kato

Showing results (121-130 of 238) with videos related to

Pageof 24
Sort By:
Annals of Clinical and Translational Neurology|May 28, 2016
Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartomaHirotomo Saitsu, Masaki Sonoda, Takefumi Higashijima, et al.
Journal of Human Genetics|November 6, 2025
Long-read genomic analyses to elucidate hidden structural variations associated with MECP2 duplication syndromeQiaowei Liang, Yuri Uchiyama, Rie Seyama, et al.
Journal of Human Genetics|May 19, 2017
A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palateKoji Kato, Fuyuki Miya, Ikumi Hori, et al.
Journal of Human Genetics|April 28, 2019
Author Correction: A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palateKoji Kato, Fuyuki Miya, Ikumi Hori, et al.
Journal of Human Genetics|April 1, 2016
WDR45 mutations in three male patients with West syndromeMitsuko Nakashima, Kyoko Takano, Yu Tsuyusaki, et al.
American Journal of Medical Genetics. Part A|October 13, 2011
De novo 5q14.3 translocation 121.5-kb upstream of MEF2C in a patient with severe intellectual disability and early-onset epileptic encephalopathyHirotomo Saitsu, Noboru Igarashi, Mitsuhiro Kato, et al.
Journal of Human Genetics|August 8, 2014
A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutationHirotomo Saitsu, Jun Tohyama, Tom Walsh, et al.
Scientific Reports|August 26, 2024
Biallelic structural variants in three patients with ERCC8-related Cockayne syndrome and a potential pitfall of copy number variation analysisDaisuke Watanabe, Nobuhiko Okamoto, Yuichi Kobayashi, et al.
Scientific Reports|October 20, 2015
De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firingHirotomo Saitsu, Tenpei Akita, Jun Tohyama, et al.
Journal of Neurochemistry|October 28, 2016
Role of a heterotrimeric G-protein, Gi2, in the corticogenesis: possible involvement in periventricular nodular heterotopia and intellectual disabilityNanako Hamada, Yutaka Negishi, Makoto Mizuno, et al.
Pageof 24

Showing results (121-130 of 238) with videos related to

Sort By:
Pageof 24
Annals of Clinical and Translational Neurology|May 28, 2016
Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartomaHirotomo Saitsu, Masaki Sonoda, Takefumi Higashijima, et al.
Journal of Human Genetics|November 6, 2025
Long-read genomic analyses to elucidate hidden structural variations associated with MECP2 duplication syndromeQiaowei Liang, Yuri Uchiyama, Rie Seyama, et al.
Journal of Human Genetics|May 19, 2017
A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palateKoji Kato, Fuyuki Miya, Ikumi Hori, et al.
Journal of Human Genetics|April 28, 2019
Author Correction: A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palateKoji Kato, Fuyuki Miya, Ikumi Hori, et al.
Journal of Human Genetics|April 1, 2016
WDR45 mutations in three male patients with West syndromeMitsuko Nakashima, Kyoko Takano, Yu Tsuyusaki, et al.
American Journal of Medical Genetics. Part A|October 13, 2011
De novo 5q14.3 translocation 121.5-kb upstream of MEF2C in a patient with severe intellectual disability and early-onset epileptic encephalopathyHirotomo Saitsu, Noboru Igarashi, Mitsuhiro Kato, et al.
Journal of Human Genetics|August 8, 2014
A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutationHirotomo Saitsu, Jun Tohyama, Tom Walsh, et al.
Scientific Reports|August 26, 2024
Biallelic structural variants in three patients with ERCC8-related Cockayne syndrome and a potential pitfall of copy number variation analysisDaisuke Watanabe, Nobuhiko Okamoto, Yuichi Kobayashi, et al.
Scientific Reports|October 20, 2015
De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firingHirotomo Saitsu, Tenpei Akita, Jun Tohyama, et al.
Journal of Neurochemistry|October 28, 2016
Role of a heterotrimeric G-protein, Gi2, in the corticogenesis: possible involvement in periventricular nodular heterotopia and intellectual disabilityNanako Hamada, Yutaka Negishi, Makoto Mizuno, et al.
Pageof 24