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Takuya Hiraide

Showing results (1-10 of 38) with videos related to

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Brain & Development|November 17, 2020
Familial periodic paralysis associated with a rare KCNJ5 variant that supposed to have incomplete penetranceTakuya Hiraide, Shinobu Fukumura, Akiyo Yamamoto, et al.
Journal of Human Genetics|August 18, 2019
A de novo variant in RAC3 causes severe global developmental delay and a middle interhemispheric variant of holoprosencephalyTakuya Hiraide, Hikari Kaba Yasui, Mitsuhiro Kato, et al.
Brain & Development|February 7, 2019
Coexistence of a CAV3 mutation and a DMD deletion in a family with complex muscular diseasesTakuya Hiraide, Tsutomu Ogata, Seiji Watanabe, et al.
No to Hattatsu = Brain and Development|January 1, 2016
[Recurrent posterior reversible encephalopathy due to vasospasm and cerebral hypoperfusionin in acute leukemia: a case report]Takuya Hiraide, Tomoko Matsubayashi, Hidetoshi Ishigaki, et al.
Congenital Anomalies|December 15, 2019
Nanopore sequencing reveals a structural alteration of mirror-image duplicated genes in a genome-editing mouse lineSachiko Miyamoto, Kazushi Aoto, Takuya Hiraide, et al.
Journal of Human Genetics|June 3, 2020
Identification of a deep intronic POLR3A variant causing inclusion of a pseudoexon derived from an Alu element in Pol III-related leukodystrophyTakuya Hiraide, Mitsuko Nakashima, Takahiro Ikeda, et al.
Epilepsia Open|August 24, 2019
De novo variants in <i>SETD1B</i> cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absencesTakuya Hiraide, Ayako Hattori, Daisuke Ieda, et al.
Molecular Genetics & Genomic Medicine|January 19, 2020
A de novo TOP2B variant associated with global developmental delay and autism spectrum disorderTakuya Hiraide, Seiji Watanabe, Tomoko Matsubayashi, et al.
Seizure|August 14, 2025
Phenotypic variation in a family with GABRG2-related epilepsy caused by a novel missense variantTakato Akiba, Kaori Yamoto, Takuya Hiraide, et al.
Brain & Development|October 2, 2021
A novel de novo TMEM63A variant in a patient with severe hypomyelination and global developmental delayShinobu Fukumura, Takuya Hiraide, Akiyo Yamamoto, et al.
Pageof 4

Showing results (1-10 of 38) with videos related to

Sort By:
Pageof 4
Brain & Development|November 17, 2020
Familial periodic paralysis associated with a rare KCNJ5 variant that supposed to have incomplete penetranceTakuya Hiraide, Shinobu Fukumura, Akiyo Yamamoto, et al.
Journal of Human Genetics|August 18, 2019
A de novo variant in RAC3 causes severe global developmental delay and a middle interhemispheric variant of holoprosencephalyTakuya Hiraide, Hikari Kaba Yasui, Mitsuhiro Kato, et al.
Brain & Development|February 7, 2019
Coexistence of a CAV3 mutation and a DMD deletion in a family with complex muscular diseasesTakuya Hiraide, Tsutomu Ogata, Seiji Watanabe, et al.
No to Hattatsu = Brain and Development|January 1, 2016
[Recurrent posterior reversible encephalopathy due to vasospasm and cerebral hypoperfusionin in acute leukemia: a case report]Takuya Hiraide, Tomoko Matsubayashi, Hidetoshi Ishigaki, et al.
Congenital Anomalies|December 15, 2019
Nanopore sequencing reveals a structural alteration of mirror-image duplicated genes in a genome-editing mouse lineSachiko Miyamoto, Kazushi Aoto, Takuya Hiraide, et al.
Journal of Human Genetics|June 3, 2020
Identification of a deep intronic POLR3A variant causing inclusion of a pseudoexon derived from an Alu element in Pol III-related leukodystrophyTakuya Hiraide, Mitsuko Nakashima, Takahiro Ikeda, et al.
Epilepsia Open|August 24, 2019
De novo variants in <i>SETD1B</i> cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absencesTakuya Hiraide, Ayako Hattori, Daisuke Ieda, et al.
Molecular Genetics & Genomic Medicine|January 19, 2020
A de novo TOP2B variant associated with global developmental delay and autism spectrum disorderTakuya Hiraide, Seiji Watanabe, Tomoko Matsubayashi, et al.
Seizure|August 14, 2025
Phenotypic variation in a family with GABRG2-related epilepsy caused by a novel missense variantTakato Akiba, Kaori Yamoto, Takuya Hiraide, et al.
Brain & Development|October 2, 2021
A novel de novo TMEM63A variant in a patient with severe hypomyelination and global developmental delayShinobu Fukumura, Takuya Hiraide, Akiyo Yamamoto, et al.
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