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Mitsuhiro Kato

Showing results (141-150 of 238) with videos related to

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Scientific Reports|October 24, 2015
TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesisSetsuri Yokoi, Naoko Ishihara, Fuyuki Miya, et al.
American Journal of Medical Genetics. Part A|January 28, 2021
Variants in KIF2A cause broad clinical presentation; the computational structural analysis of a novel variant in a patient with a cortical dysplasia, complex, with other brain malformations 3Maiko Hatano, Hiroko Fukushima, Tatsuyuki Ohto, et al.
Scientific Reports|July 21, 2016
Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delayHirotomo Saitsu, Miho Watanabe, Tenpei Akita, et al.
Neurology|June 15, 2019
Pathogenic variants of <i>DYNC2H1</i>, <i>KIAA0556</i>, and <i>PTPN11</i> associated with hypothalamic hamartomaAtsushi Fujita, Takefumi Higashijima, Hiroshi Shirozu, et al.
Scientific Reports|October 21, 2024
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencingKazuyuki Komatsu, Mitsuhiro Kato, Kazuo Kubota, et al.
American Journal of Human Genetics|February 4, 2018
Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic EncephalopathyHiroki Mutoh, Mitsuhiro Kato, Tenpei Akita, et al.
Journal of Medical Genetics|December 22, 2018
<i>MYCN</i> de novo gain-of-function mutation in a patient with a novel megalencephaly syndromeKohji Kato, Fuyuki Miya, Nanako Hamada, et al.
Scientific Reports|April 6, 2018
IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysisDaichi Shigemizu, Fuyuki Miya, Shintaro Akiyama, et al.
Scientific Reports|July 5, 2018
Publisher Correction: IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysisDaichi Shigemizu, Fuyuki Miya, Shintaro Akiyama, et al.
Scientific Reports|February 8, 2013
Post-natal treatment by a blood-brain-barrier permeable calpain inhibitor, SNJ1945 rescued defective function in lissencephalyShiori Toba, Yasuhisa Tamura, Kanako Kumamoto, et al.
Pageof 24

Showing results (141-150 of 238) with videos related to

Sort By:
Pageof 24
Scientific Reports|October 24, 2015
TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesisSetsuri Yokoi, Naoko Ishihara, Fuyuki Miya, et al.
American Journal of Medical Genetics. Part A|January 28, 2021
Variants in KIF2A cause broad clinical presentation; the computational structural analysis of a novel variant in a patient with a cortical dysplasia, complex, with other brain malformations 3Maiko Hatano, Hiroko Fukushima, Tatsuyuki Ohto, et al.
Scientific Reports|July 21, 2016
Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delayHirotomo Saitsu, Miho Watanabe, Tenpei Akita, et al.
Neurology|June 15, 2019
Pathogenic variants of <i>DYNC2H1</i>, <i>KIAA0556</i>, and <i>PTPN11</i> associated with hypothalamic hamartomaAtsushi Fujita, Takefumi Higashijima, Hiroshi Shirozu, et al.
Scientific Reports|October 21, 2024
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencingKazuyuki Komatsu, Mitsuhiro Kato, Kazuo Kubota, et al.
American Journal of Human Genetics|February 4, 2018
Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic EncephalopathyHiroki Mutoh, Mitsuhiro Kato, Tenpei Akita, et al.
Journal of Medical Genetics|December 22, 2018
<i>MYCN</i> de novo gain-of-function mutation in a patient with a novel megalencephaly syndromeKohji Kato, Fuyuki Miya, Nanako Hamada, et al.
Scientific Reports|April 6, 2018
IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysisDaichi Shigemizu, Fuyuki Miya, Shintaro Akiyama, et al.
Scientific Reports|July 5, 2018
Publisher Correction: IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysisDaichi Shigemizu, Fuyuki Miya, Shintaro Akiyama, et al.
Scientific Reports|February 8, 2013
Post-natal treatment by a blood-brain-barrier permeable calpain inhibitor, SNJ1945 rescued defective function in lissencephalyShiori Toba, Yasuhisa Tamura, Kanako Kumamoto, et al.
Pageof 24