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Mitsuko Nakashima

Showing results (141-150 of 208) with videos related to

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Journal of Human Genetics|January 13, 2017
PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorderTakeshi Mizuguchi, Mitsuko Nakashima, Mitsuhiro Kato, 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.
Journal of Human Genetics|February 6, 2015
A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutationMisako Kunii, Hiroshi Doi, Yuichi Higashiyama, 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.
Scientific Reports|November 25, 2014
Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutationHiroshi Doi, Masao Ushiyama, Takashi Baba, et al.
Brain & Development|April 28, 2018
Two Japanese cases of epileptic encephalopathy associated with an FGF12 mutationRyo Takeguchi, Kazuhiro Haginoya, Yuri Uchiyama, et al.
Clinical Genetics|July 28, 2018
A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopeniaYuri Uchiyama, Kunio Yanagisawa, Shinji Kunishima, 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.
Medicine|September 25, 2023
Both MLH1 deficiency and BRAFV600E mutation are a unique characteristic of colorectal medullary carcinoma: An observational studyMasanao Kaneko, Mitsuko Nakashima, Kiichi Sugiura, et al.
Pageof 21

Showing results (141-150 of 208) with videos related to

Sort By:
Pageof 21
Journal of Human Genetics|January 13, 2017
PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorderTakeshi Mizuguchi, Mitsuko Nakashima, Mitsuhiro Kato, 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.
Journal of Human Genetics|February 6, 2015
A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutationMisako Kunii, Hiroshi Doi, Yuichi Higashiyama, 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.
Scientific Reports|November 25, 2014
Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutationHiroshi Doi, Masao Ushiyama, Takashi Baba, et al.
Brain & Development|April 28, 2018
Two Japanese cases of epileptic encephalopathy associated with an FGF12 mutationRyo Takeguchi, Kazuhiro Haginoya, Yuri Uchiyama, et al.
Clinical Genetics|July 28, 2018
A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopeniaYuri Uchiyama, Kunio Yanagisawa, Shinji Kunishima, 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.
Medicine|September 25, 2023
Both MLH1 deficiency and BRAFV600E mutation are a unique characteristic of colorectal medullary carcinoma: An observational studyMasanao Kaneko, Mitsuko Nakashima, Kiichi Sugiura, et al.
Pageof 21