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Takuya Hiraide

Showing results (31-40 of 38) with videos related to

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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.
Frontiers in Neurology|December 12, 2019
Three Cases of Hemiconvulsion-Hemiplegia-Epilepsy Syndrome With Focal Cortical Dysplasia Type IIIdShinji Itamura, Tohru Okanishi, Yoshifumi Arai, et al.
Journal of Human Genetics|December 15, 2023
RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicingRyota Kawakami, Takuya Hiraide, Kazuki Watanabe, et al.
Journal of Human Genetics|September 11, 2015
De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbanceChihiro Ohba, Kazuhiro Haginoya, Hitoshi Osaka, et al.
Clinical Genetics|March 1, 2021
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencingTakuya Hiraide, Kaori Yamoto, Yohei Masunaga, et al.
Journal of Human Genetics|January 19, 2019
Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizuresMitsuko Nakashima, Jun Tohyama, Eiji Nakagawa, 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.
Journal of Human Genetics|May 7, 2021
Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomaliesSachiko Miyamoto, Mitsuhiro Kato, Takuya Hiraide, et al.
Pageof 4

Showing results (31-40 of 38) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 38 results.
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.
Frontiers in Neurology|December 12, 2019
Three Cases of Hemiconvulsion-Hemiplegia-Epilepsy Syndrome With Focal Cortical Dysplasia Type IIIdShinji Itamura, Tohru Okanishi, Yoshifumi Arai, et al.
Journal of Human Genetics|December 15, 2023
RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicingRyota Kawakami, Takuya Hiraide, Kazuki Watanabe, et al.
Journal of Human Genetics|September 11, 2015
De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbanceChihiro Ohba, Kazuhiro Haginoya, Hitoshi Osaka, et al.
Clinical Genetics|March 1, 2021
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencingTakuya Hiraide, Kaori Yamoto, Yohei Masunaga, et al.
Journal of Human Genetics|January 19, 2019
Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizuresMitsuko Nakashima, Jun Tohyama, Eiji Nakagawa, 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.
Journal of Human Genetics|May 7, 2021
Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomaliesSachiko Miyamoto, Mitsuhiro Kato, Takuya Hiraide, et al.
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