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Takuya Hiraide

Showing results (11-20 of 38) with videos related to

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Journal of Human Genetics|March 9, 2023
A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndromeTakuya Hiraide, Kenji Shimizu, Yoshinori Okumura, et al.
Brain & Development|November 9, 2021
Compound heterozygous ADAMTS9 variants in Joubert syndrome-related disorders without renal manifestationHiroko Baber Matsushita, Takuya Hiraide, Katsumi Hayakawa, et al.
Journal of Neurology|March 22, 2015
Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 geneMasayuki Sasaki, Chihiro Ohba, Mizue Iai, et al.
Cureus|February 10, 2025
Vitamin A Deficiency in Children With Autism Spectrum DisorderYuki Ozawa, Akiko Hikoya, Nobutaka Tachibana, et al.
Pediatric Neurology|July 13, 2016
Childhood-Onset Multifocal Motor Neuropathy With Immunoglobulin M Antibodies to Gangliosides GM1 and GM2: A Case Report and Review of the LiteratureHidetoshi Ishigaki, Takuya Hiraide, Yoshifumi Miyagi, et al.
Journal of Human Genetics|June 11, 2021
Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variantTakuya Hiraide, Taihei Tanaka, Yohei Masunaga, et al.
European Journal of Medical Genetics|November 8, 2019
Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic featuresTokiko Fukuda, Takuya Hiraide, Kaori Yamoto, et al.
Brain & Development|July 25, 2025
An atypical case of macrocephaly and severe intellectual disability associated with a missense variant in the guanine nucleotide exchange factor-1 domain of TRIOTakuya Hiraide, Taiju Hayashi, Kaori Yamoto, et al.
Journal of Human Genetics|January 24, 2022
Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicingTakuya Hiraide, Kenji Shimizu, Sachiko Miyamoto, et al.
Journal of Human Genetics|October 18, 2022
A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcomeTakuya Hiraide, Tenpei Akita, Kenji Uematsu, et al.
Pageof 4

Showing results (11-20 of 38) with videos related to

Sort By:
Pageof 4
Journal of Human Genetics|March 9, 2023
A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndromeTakuya Hiraide, Kenji Shimizu, Yoshinori Okumura, et al.
Brain & Development|November 9, 2021
Compound heterozygous ADAMTS9 variants in Joubert syndrome-related disorders without renal manifestationHiroko Baber Matsushita, Takuya Hiraide, Katsumi Hayakawa, et al.
Journal of Neurology|March 22, 2015
Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 geneMasayuki Sasaki, Chihiro Ohba, Mizue Iai, et al.
Cureus|February 10, 2025
Vitamin A Deficiency in Children With Autism Spectrum DisorderYuki Ozawa, Akiko Hikoya, Nobutaka Tachibana, et al.
Pediatric Neurology|July 13, 2016
Childhood-Onset Multifocal Motor Neuropathy With Immunoglobulin M Antibodies to Gangliosides GM1 and GM2: A Case Report and Review of the LiteratureHidetoshi Ishigaki, Takuya Hiraide, Yoshifumi Miyagi, et al.
Journal of Human Genetics|June 11, 2021
Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variantTakuya Hiraide, Taihei Tanaka, Yohei Masunaga, et al.
European Journal of Medical Genetics|November 8, 2019
Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic featuresTokiko Fukuda, Takuya Hiraide, Kaori Yamoto, et al.
Brain & Development|July 25, 2025
An atypical case of macrocephaly and severe intellectual disability associated with a missense variant in the guanine nucleotide exchange factor-1 domain of TRIOTakuya Hiraide, Taiju Hayashi, Kaori Yamoto, et al.
Journal of Human Genetics|January 24, 2022
Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicingTakuya Hiraide, Kenji Shimizu, Sachiko Miyamoto, et al.
Journal of Human Genetics|October 18, 2022
A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcomeTakuya Hiraide, Tenpei Akita, Kenji Uematsu, et al.
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