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Satoko Miyatake

Showing results (81-90 of 212) with videos related to

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European Journal of Neurology|January 27, 2023
Association of biallelic RFC1 expansion with early-onset Parkinson's diseasePauli Ylikotila, Jussi Sipilä, Tiina Alapirtti, et al.
Brain & Development|July 11, 2019
Single-fiber electromyography-based diagnosis of CACNA1A mutation in children: A potential role of the electrodiagnosis in the era of whole exome sequencingAyaka Hirasawa-Inoue, Akihiko Ishiyama, Eri Takeshita, et al.
Journal of Human Genetics|September 17, 2021
Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic featuresShinichi Kameyama, Takeshi Mizuguchi, Hiromi Fukuda, et al.
American Journal of Medical Genetics. Part A|May 25, 2013
Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomaliesYukiko Kondo, Eriko Koshimizu, Andre Megarbane, et al.
Journal of Human Genetics|April 1, 2016
WDR45 mutations in three male patients with West syndromeMitsuko Nakashima, Kyoko Takano, Yu Tsuyusaki, et al.
Molecular Syndromology|December 18, 2023
Detection of Modified Histones from Oral Mucosa of a Patient with DYT-<i>KMT2B</i> DystoniaNaoto Sugeno, Takafumi Hasegawa, Kazuhiro Haginoya, et al.
Genome Research|June 12, 2023
Genome-wide identification of tandem repeats associated with splicing variation across 49 tissues in humansKohei Hamanaka, Daisuke Yamauchi, Eriko Koshimizu, et al.
Annals of Clinical and Translational Neurology|May 28, 2016
Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartomaHirotomo Saitsu, Masaki Sonoda, Takefumi Higashijima, 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|January 18, 2018
Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathyKazuhiro Iwama, Toru Takaori, Ai Fukushima, et al.
Pageof 22

Showing results (81-90 of 212) with videos related to

Sort By:
Pageof 22
European Journal of Neurology|January 27, 2023
Association of biallelic RFC1 expansion with early-onset Parkinson's diseasePauli Ylikotila, Jussi Sipilä, Tiina Alapirtti, et al.
Brain & Development|July 11, 2019
Single-fiber electromyography-based diagnosis of CACNA1A mutation in children: A potential role of the electrodiagnosis in the era of whole exome sequencingAyaka Hirasawa-Inoue, Akihiko Ishiyama, Eri Takeshita, et al.
Journal of Human Genetics|September 17, 2021
Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic featuresShinichi Kameyama, Takeshi Mizuguchi, Hiromi Fukuda, et al.
American Journal of Medical Genetics. Part A|May 25, 2013
Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomaliesYukiko Kondo, Eriko Koshimizu, Andre Megarbane, et al.
Journal of Human Genetics|April 1, 2016
WDR45 mutations in three male patients with West syndromeMitsuko Nakashima, Kyoko Takano, Yu Tsuyusaki, et al.
Molecular Syndromology|December 18, 2023
Detection of Modified Histones from Oral Mucosa of a Patient with DYT-<i>KMT2B</i> DystoniaNaoto Sugeno, Takafumi Hasegawa, Kazuhiro Haginoya, et al.
Genome Research|June 12, 2023
Genome-wide identification of tandem repeats associated with splicing variation across 49 tissues in humansKohei Hamanaka, Daisuke Yamauchi, Eriko Koshimizu, et al.
Annals of Clinical and Translational Neurology|May 28, 2016
Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartomaHirotomo Saitsu, Masaki Sonoda, Takefumi Higashijima, 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|January 18, 2018
Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathyKazuhiro Iwama, Toru Takaori, Ai Fukushima, et al.
Pageof 22