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Takeshi Mizuguchi

Showing results (171-180 of 185) with videos related to

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Science Advances|March 25, 2021
De novo ATP1A3 variants cause polymicrogyriaSatoko Miyatake, Mitsuhiro Kato, Takuma Kumamoto, et al.
European Journal of Human Genetics : EJHG|March 27, 2023
Molecular diagnosis of 405 individuals with autism spectrum disorderNoriko Miyake, Yoshinori Tsurusaki, Ryoko Fukai, et al.
European Journal of Human Genetics : EJHG|May 23, 2025
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic lociMathis Hildonen, Andrea Ciolfi, Marco Ferilli, et al.
Journal of Medical Genetics|March 8, 2019
Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencingKazuhiro Iwama, Takeshi Mizuguchi, Eri Takeshita, et al.
Iscience|May 21, 2026
The mTOR-Dop1a-Agpat2 axis regulates nuclear phospholipid homeostasisHirotaka Ariyama, Atsushi Tsukamura, Satoko Miyatake, et al.
Human Genetics|May 4, 2021
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsyIlaria Parenti, Daphné Lehalle, Caroline Nava, et al.
HGG Advances|November 6, 2024
CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignatureLiselot van der Laan, Ananília Silva, Lotte Kleinendorst, et al.
Human Mutation|November 1, 2020
Efficient detection of copy-number variations using exome data: Batch- and sex-based analysesYuri Uchiyama, Daisuke Yamaguchi, Kazuhiro Iwama, et al.
Nature Communications|June 9, 2019
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathyAtsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu, et al.
NPJ Genomic Medicine|August 26, 2025
Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delayKohei Hamanaka, Atsushi Fujita, Satoko Miyatake, et al.
Pageof 19

Showing results (171-180 of 185) with videos related to

Sort By:
Pageof 19
Science Advances|March 25, 2021
De novo ATP1A3 variants cause polymicrogyriaSatoko Miyatake, Mitsuhiro Kato, Takuma Kumamoto, et al.
European Journal of Human Genetics : EJHG|March 27, 2023
Molecular diagnosis of 405 individuals with autism spectrum disorderNoriko Miyake, Yoshinori Tsurusaki, Ryoko Fukai, et al.
European Journal of Human Genetics : EJHG|May 23, 2025
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic lociMathis Hildonen, Andrea Ciolfi, Marco Ferilli, et al.
Journal of Medical Genetics|March 8, 2019
Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencingKazuhiro Iwama, Takeshi Mizuguchi, Eri Takeshita, et al.
Iscience|May 21, 2026
The mTOR-Dop1a-Agpat2 axis regulates nuclear phospholipid homeostasisHirotaka Ariyama, Atsushi Tsukamura, Satoko Miyatake, et al.
Human Genetics|May 4, 2021
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsyIlaria Parenti, Daphné Lehalle, Caroline Nava, et al.
HGG Advances|November 6, 2024
CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignatureLiselot van der Laan, Ananília Silva, Lotte Kleinendorst, et al.
Human Mutation|November 1, 2020
Efficient detection of copy-number variations using exome data: Batch- and sex-based analysesYuri Uchiyama, Daisuke Yamaguchi, Kazuhiro Iwama, et al.
Nature Communications|June 9, 2019
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathyAtsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu, et al.
NPJ Genomic Medicine|August 26, 2025
Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delayKohei Hamanaka, Atsushi Fujita, Satoko Miyatake, et al.
Pageof 19