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Satoko Miyatake

Showing results (121-130 of 212) with videos related to

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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|October 16, 2024
Biallelic missense CEP55 variants cause prenatal MARCH syndromeLi Fu, Yuka Yamamoto, Rie Seyama, et al.
Journal of Human Genetics|July 1, 2026
Haplotype analysis of spinocerebellar ataxia type 36 suggests a shared permissive core haplotype across populationsKatsuki Eguchi, Satoko Miyatake, Asako Takei, et al.
Genomics|August 30, 2022
Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotypeShinichi Kameyama, Takeshi Mizuguchi, Hiroshi Doi, et al.
Journal of Human Genetics|November 1, 2021
Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphismsRie Seyama, Naomi Tsuchida, Yasuyuki Okada, et al.
Clinical Genetics|July 19, 2018
Novel SUZ12 mutations in Weaver-like syndromeEri Imagawa, Edoarda V A Albuquerque, Bertrand Isidor, et al.
Journal of Human Genetics|February 19, 2020
Long-read sequencing identifies the pathogenic nucleotide repeat expansion in RFC1 in a Japanese case of CANVASHaruko Nakamura, Hiroshi Doi, Satomi Mitsuhashi, et al.
Journal of Human Genetics|January 16, 2024
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disabilityYuta Inoue, Naomi Tsuchida, Chong Ae Kim, et al.
Human Mutation|February 24, 2017
Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndromeEri Imagawa, Ken Higashimoto, Yasunari Sakai, et al.
Pageof 22

Showing results (121-130 of 212) with videos related to

Sort By:
Pageof 22
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|October 16, 2024
Biallelic missense CEP55 variants cause prenatal MARCH syndromeLi Fu, Yuka Yamamoto, Rie Seyama, et al.
Journal of Human Genetics|July 1, 2026
Haplotype analysis of spinocerebellar ataxia type 36 suggests a shared permissive core haplotype across populationsKatsuki Eguchi, Satoko Miyatake, Asako Takei, et al.
Genomics|August 30, 2022
Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotypeShinichi Kameyama, Takeshi Mizuguchi, Hiroshi Doi, et al.
Journal of Human Genetics|November 1, 2021
Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphismsRie Seyama, Naomi Tsuchida, Yasuyuki Okada, et al.
Clinical Genetics|July 19, 2018
Novel SUZ12 mutations in Weaver-like syndromeEri Imagawa, Edoarda V A Albuquerque, Bertrand Isidor, et al.
Journal of Human Genetics|February 19, 2020
Long-read sequencing identifies the pathogenic nucleotide repeat expansion in RFC1 in a Japanese case of CANVASHaruko Nakamura, Hiroshi Doi, Satomi Mitsuhashi, et al.
Journal of Human Genetics|January 16, 2024
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disabilityYuta Inoue, Naomi Tsuchida, Chong Ae Kim, et al.
Human Mutation|February 24, 2017
Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndromeEri Imagawa, Ken Higashimoto, Yasunari Sakai, et al.
Pageof 22