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Takuya Hiraide

Showing results (21-30 of 38) with videos related to

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Journal of Human Genetics|January 9, 2022
Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctataTakuya Hiraide, Yohei Masunaga, Akira Honda, et al.
Acta Medica Okayama|August 27, 2025
Effectiveness of Pallidal Stimulation for Dystonic Storm and Subsequent Ssevere Posterior Reversible Encephalopathy Syndrome in a Patient with GNAO1 VariantKoji Kawai, Tatsuya Sasaki, Shun Tanimoto, et al.
Frontiers in Pediatrics|April 17, 2024
Case Report: Novel compound heterozygous <i>TPRKB</i> variants cause Galloway-Mowat syndromeTakuya Hiraide, Taiju Hayashi, Yusuke Ito, et al.
Brain & Development|June 7, 2021
Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylationTakuya Hiraide, Yoshinao Wada, Tomoko Matsubayashi, et al.
Brain & Development|January 15, 2020
POLR3A variants in striatal involvement without diffuse hypomyelinationTakuya Hiraide, Kazuo Kubota, Yu Kono, et al.
Brain & Development|June 30, 2020
A recurrent TMEM106B mutation in hypomyelinating leukodystrophy: A rapid diagnostic assaySatoru Ikemoto, Shin-Ichiro Hamano, Kenjiro Kikuchi, et al.
Journal of Human Genetics|January 6, 2026
Identification of 5' untranslated region variants in genes involved in neurodevelopmental disordersTaiju Hayashi, Sachiko Miyamoto, Yusaku Endo, et al.
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.
Brain & Development|July 8, 2026
Recurrent RNU4-2 n.64_65insT variant in ReNU syndrome identified in exome-negative casesTakuya Hiraide, Kenji Shimizu, Taiju Hayashi, 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.
Pageof 4

Showing results (21-30 of 38) with videos related to

Sort By:
Pageof 4
Journal of Human Genetics|January 9, 2022
Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctataTakuya Hiraide, Yohei Masunaga, Akira Honda, et al.
Acta Medica Okayama|August 27, 2025
Effectiveness of Pallidal Stimulation for Dystonic Storm and Subsequent Ssevere Posterior Reversible Encephalopathy Syndrome in a Patient with GNAO1 VariantKoji Kawai, Tatsuya Sasaki, Shun Tanimoto, et al.
Frontiers in Pediatrics|April 17, 2024
Case Report: Novel compound heterozygous <i>TPRKB</i> variants cause Galloway-Mowat syndromeTakuya Hiraide, Taiju Hayashi, Yusuke Ito, et al.
Brain & Development|June 7, 2021
Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylationTakuya Hiraide, Yoshinao Wada, Tomoko Matsubayashi, et al.
Brain & Development|January 15, 2020
POLR3A variants in striatal involvement without diffuse hypomyelinationTakuya Hiraide, Kazuo Kubota, Yu Kono, et al.
Brain & Development|June 30, 2020
A recurrent TMEM106B mutation in hypomyelinating leukodystrophy: A rapid diagnostic assaySatoru Ikemoto, Shin-Ichiro Hamano, Kenjiro Kikuchi, et al.
Journal of Human Genetics|January 6, 2026
Identification of 5' untranslated region variants in genes involved in neurodevelopmental disordersTaiju Hayashi, Sachiko Miyamoto, Yusaku Endo, et al.
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.
Brain & Development|July 8, 2026
Recurrent RNU4-2 n.64_65insT variant in ReNU syndrome identified in exome-negative casesTakuya Hiraide, Kenji Shimizu, Taiju Hayashi, 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.
Pageof 4