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Satoko Miyatake

Showing results (41-50 of 212) with videos related to

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Journal of Human Genetics|July 19, 2018
A novel SLC9A1 mutation causes cerebellar ataxiaKazuhiro Iwama, Hitoshi Osaka, Takahiro Ikeda, et al.
Genomics|November 6, 2020
Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencingTakeshi Mizuguchi, Nobuhiko Okamoto, Keiko Yanagihara, et al.
Brain & Development|July 20, 2021
Progressive cerebral atrophies in three children with COL4A1 mutationsYuko Nakamura, Tohru Okanishi, Hiroyuki Yamada, et al.
Journal of Human Genetics|January 12, 2024
Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive samplingEriko Koshimizu, Mitsuhiro Kato, Kazuharu Misawa, et al.
NPJ Parkinson'S Disease|January 11, 2022
Biallelic expansion in RFC1 as a rare cause of Parkinson's diseaseLaura Kytövuori, Jussi Sipilä, Hiroshi Doi, et al.
Genome Biology|March 21, 2019
Tandem-genotypes: robust detection of tandem repeat expansions from long DNA readsSatomi Mitsuhashi, Martin C Frith, Takeshi Mizuguchi, et al.
Radiology Case Reports|January 20, 2023
A case of early-infantile onset, rapidly progressive leukoencephalopathy with calcifications and cysts caused by biallelic <i>SNORD118</i> variantsKazuo Kodama, Hiromi Aoyama, Yoshimi Murakami, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|May 22, 2015
Homozygous p.V116* mutation in C12orf65 results in Leigh syndromeEri Imagawa, Aviva Fattal-Valevski, Ori Eyal, et al.
Journal of Human Genetics|August 26, 2025
Biallelic TSEN2 variants causing pontocerebellar hypoplasia type 2Yukina Hayashi, Keisuke Hamada, Kavitha Rethanavelu, et al.
Journal of Human Genetics|March 3, 2017
ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndromeSatoko Miyatake, Nobuhiko Okamoto, Zornitza Stark, et al.
Pageof 22

Showing results (41-50 of 212) with videos related to

Sort By:
Pageof 22
Journal of Human Genetics|July 19, 2018
A novel SLC9A1 mutation causes cerebellar ataxiaKazuhiro Iwama, Hitoshi Osaka, Takahiro Ikeda, et al.
Genomics|November 6, 2020
Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencingTakeshi Mizuguchi, Nobuhiko Okamoto, Keiko Yanagihara, et al.
Brain & Development|July 20, 2021
Progressive cerebral atrophies in three children with COL4A1 mutationsYuko Nakamura, Tohru Okanishi, Hiroyuki Yamada, et al.
Journal of Human Genetics|January 12, 2024
Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive samplingEriko Koshimizu, Mitsuhiro Kato, Kazuharu Misawa, et al.
NPJ Parkinson'S Disease|January 11, 2022
Biallelic expansion in RFC1 as a rare cause of Parkinson's diseaseLaura Kytövuori, Jussi Sipilä, Hiroshi Doi, et al.
Genome Biology|March 21, 2019
Tandem-genotypes: robust detection of tandem repeat expansions from long DNA readsSatomi Mitsuhashi, Martin C Frith, Takeshi Mizuguchi, et al.
Radiology Case Reports|January 20, 2023
A case of early-infantile onset, rapidly progressive leukoencephalopathy with calcifications and cysts caused by biallelic <i>SNORD118</i> variantsKazuo Kodama, Hiromi Aoyama, Yoshimi Murakami, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|May 22, 2015
Homozygous p.V116* mutation in C12orf65 results in Leigh syndromeEri Imagawa, Aviva Fattal-Valevski, Ori Eyal, et al.
Journal of Human Genetics|August 26, 2025
Biallelic TSEN2 variants causing pontocerebellar hypoplasia type 2Yukina Hayashi, Keisuke Hamada, Kavitha Rethanavelu, et al.
Journal of Human Genetics|March 3, 2017
ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndromeSatoko Miyatake, Nobuhiko Okamoto, Zornitza Stark, et al.
Pageof 22