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Satoko Miyatake

Showing results (91-100 of 212) with videos related to

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Journal of Human Genetics|January 11, 2023
Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicismRie Seyama, Yuri Uchiyama, Yosuke Kaneshi, 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.
Brain & Development|July 4, 2021
A 23-year follow-up report of juvenile-onset Sandhoff disease presenting with a motor neuron disease phenotype and a novel variantMoriei Shibuya, Saki Uneoka, Akira Onuma, et al.
Scientific Reports|October 20, 2015
De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firingHirotomo Saitsu, Tenpei Akita, Jun Tohyama, et al.
Brain & Development|January 11, 2023
Skeletal anomaly and opisthotonus in early-onset epileptic encephalopathy with KCNQ2 abnormalityOsamu Kawano, Takashi Saito, Noriko Sumitomo, et al.
Journal of Human Genetics|February 15, 2018
A homozygous NOP14 variant is likely to cause recurrent pregnancy lossToshifumi Suzuki, Mahdiyeh Behnam, Firooze Ronasian, et al.
Frontiers in Neurology|August 6, 2025
Non-coding repeat analyses in patients with Parkinson's diseaseMakito Hirano, Makoto Samukawa, Satoko Miyatake, 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.
International Journal of Hematology|March 15, 2024
A case of Bloom syndrome manifesting with therapy-related myelodysplastic syndromes harboring a novel BLM gene variantTakuma Ohashi, Hiroyoshi Kunimoto, Jun Nukui, 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 22

Showing results (91-100 of 212) with videos related to

Sort By:
Pageof 22
Journal of Human Genetics|January 11, 2023
Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicismRie Seyama, Yuri Uchiyama, Yosuke Kaneshi, 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.
Brain & Development|July 4, 2021
A 23-year follow-up report of juvenile-onset Sandhoff disease presenting with a motor neuron disease phenotype and a novel variantMoriei Shibuya, Saki Uneoka, Akira Onuma, et al.
Scientific Reports|October 20, 2015
De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firingHirotomo Saitsu, Tenpei Akita, Jun Tohyama, et al.
Brain & Development|January 11, 2023
Skeletal anomaly and opisthotonus in early-onset epileptic encephalopathy with KCNQ2 abnormalityOsamu Kawano, Takashi Saito, Noriko Sumitomo, et al.
Journal of Human Genetics|February 15, 2018
A homozygous NOP14 variant is likely to cause recurrent pregnancy lossToshifumi Suzuki, Mahdiyeh Behnam, Firooze Ronasian, et al.
Frontiers in Neurology|August 6, 2025
Non-coding repeat analyses in patients with Parkinson's diseaseMakito Hirano, Makoto Samukawa, Satoko Miyatake, 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.
International Journal of Hematology|March 15, 2024
A case of Bloom syndrome manifesting with therapy-related myelodysplastic syndromes harboring a novel BLM gene variantTakuma Ohashi, Hiroyoshi Kunimoto, Jun Nukui, 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 22