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Masamune Sakamoto

Showing results (1-10 of 26) with videos related to

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Brain & Development|April 19, 2024
Adolescent-onset epilepsy and deterioration associated with CAD deficiency: A case reportSebastián Silva, Mónica Rosas, Benjamín Guerra, et al.
Brain & Development|March 25, 2023
A case of epilepsy with myoclonic atonic seizures caused by SLC6A1 gene mutation due to balanced chromosomal translocationTatsuo Mori, Masamune Sakamoto, Takahiro Tayama, et al.
Clinical Genetics|October 28, 2025
A Case of CACNA1I-Related Neurodevelopmental Disorder With Dysmorphism and Brain Iron Accumulation: Expanding the Clinical SpectrumRyo Sugiyama, Takashi Saito, Hiroyuki Maki, et al.
NAR Genomics and Bioinformatics|December 22, 2025
A practical framework for predicting splicing single nucleotide variants in exome sequencingYasuhiro Utsuno, Kohei Hamanaka, Masamune Sakamoto, et al.
Journal of Human Genetics|December 12, 2022
A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8Masamune Sakamoto, Toshihide Shiiki, Shuji Matsui, et al.
Journal of Human Genetics|November 6, 2025
Long-read genomic analyses to elucidate hidden structural variations associated with MECP2 duplication syndromeQiaowei Liang, Yuri Uchiyama, Rie Seyama, et al.
Journal of Human Genetics|May 15, 2020
A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunctionMasamune Sakamoto, Den Kouhei, Muzhirah Haniffa, et al.
Journal of Human Genetics|November 13, 2025
Biallelic variants in TNR cause neurodevelopmental disorders with variable expressivityAtsuhiro Ozaki, Masamune Sakamoto, Satoko Kumada, et al.
Journal of Human Genetics|November 29, 2023
A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalitiesMasamune Sakamoto, Kenji Kurosawa, Koji Tanoue, et al.
Clinical Epigenetics|February 19, 2025
Diagnostic utility of single-locus DNA methylation mark in Sotos syndrome developed by nanopore sequencing-based episignatureTakeshi Mizuguchi, Nobuhiko Okamoto, Taiki Hara, et al.
Pageof 3

Showing results (1-10 of 26) with videos related to

Sort By:
Pageof 3
Brain & Development|April 19, 2024
Adolescent-onset epilepsy and deterioration associated with CAD deficiency: A case reportSebastián Silva, Mónica Rosas, Benjamín Guerra, et al.
Brain & Development|March 25, 2023
A case of epilepsy with myoclonic atonic seizures caused by SLC6A1 gene mutation due to balanced chromosomal translocationTatsuo Mori, Masamune Sakamoto, Takahiro Tayama, et al.
Clinical Genetics|October 28, 2025
A Case of CACNA1I-Related Neurodevelopmental Disorder With Dysmorphism and Brain Iron Accumulation: Expanding the Clinical SpectrumRyo Sugiyama, Takashi Saito, Hiroyuki Maki, et al.
NAR Genomics and Bioinformatics|December 22, 2025
A practical framework for predicting splicing single nucleotide variants in exome sequencingYasuhiro Utsuno, Kohei Hamanaka, Masamune Sakamoto, et al.
Journal of Human Genetics|December 12, 2022
A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8Masamune Sakamoto, Toshihide Shiiki, Shuji Matsui, et al.
Journal of Human Genetics|November 6, 2025
Long-read genomic analyses to elucidate hidden structural variations associated with MECP2 duplication syndromeQiaowei Liang, Yuri Uchiyama, Rie Seyama, et al.
Journal of Human Genetics|May 15, 2020
A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunctionMasamune Sakamoto, Den Kouhei, Muzhirah Haniffa, et al.
Journal of Human Genetics|November 13, 2025
Biallelic variants in TNR cause neurodevelopmental disorders with variable expressivityAtsuhiro Ozaki, Masamune Sakamoto, Satoko Kumada, et al.
Journal of Human Genetics|November 29, 2023
A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalitiesMasamune Sakamoto, Kenji Kurosawa, Koji Tanoue, et al.
Clinical Epigenetics|February 19, 2025
Diagnostic utility of single-locus DNA methylation mark in Sotos syndrome developed by nanopore sequencing-based episignatureTakeshi Mizuguchi, Nobuhiko Okamoto, Taiki Hara, et al.
Pageof 3