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Mitsuko Nakashima

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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.
Molecular Genetics & Genomic Medicine|June 25, 2019
A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelinationSachiko Miyamoto, Mitsuko Nakashima, Tsukasa Ohashi, 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.
Brain & Development|March 17, 2020
A case of CLCN2-related leukoencephalopathy with bright tree appearance during aseptic meningitisAyami Ozaki, Masayuki Sasaki, Takuya Hiraide, et al.
Molecular Vision|February 27, 2013
Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencingYukiko Kondo, Hirotomo Saitsu, Toshinobu Miyamoto, et al.
Scientific Reports|March 10, 2016
Ultra-sensitive droplet digital PCR for detecting a low-prevalence somatic GNAQ mutation in Sturge-Weber syndromeYuri Uchiyama, Mitsuko Nakashima, Satoshi Watanabe, et al.
American Journal of Medical Genetics. Part A|May 25, 2013
Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomaliesYukiko Kondo, Eriko Koshimizu, Andre Megarbane, 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.
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.
Scientific Reports|October 20, 2015
De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firingHirotomo Saitsu, Tenpei Akita, Jun Tohyama, et al.
Pageof 21

Showing results (111-120 of 208) with videos related to

Sort By:
Pageof 21
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.
Molecular Genetics & Genomic Medicine|June 25, 2019
A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelinationSachiko Miyamoto, Mitsuko Nakashima, Tsukasa Ohashi, 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.
Brain & Development|March 17, 2020
A case of CLCN2-related leukoencephalopathy with bright tree appearance during aseptic meningitisAyami Ozaki, Masayuki Sasaki, Takuya Hiraide, et al.
Molecular Vision|February 27, 2013
Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencingYukiko Kondo, Hirotomo Saitsu, Toshinobu Miyamoto, et al.
Scientific Reports|March 10, 2016
Ultra-sensitive droplet digital PCR for detecting a low-prevalence somatic GNAQ mutation in Sturge-Weber syndromeYuri Uchiyama, Mitsuko Nakashima, Satoshi Watanabe, et al.
American Journal of Medical Genetics. Part A|May 25, 2013
Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomaliesYukiko Kondo, Eriko Koshimizu, Andre Megarbane, 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.
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.
Scientific Reports|October 20, 2015
De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firingHirotomo Saitsu, Tenpei Akita, Jun Tohyama, et al.
Pageof 21