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Satoko Miyatake

Showing results (71-80 of 212) with videos related to

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Journal of Human Genetics|August 17, 2023
Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipationTakeshi Mizuguchi, Tomoko Toyota, Eriko Koshimizu, et al.
Journal of Human Genetics|February 15, 2019
A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencingTakeshi Mizuguchi, Takeshi Suzuki, Chihiro Abe, et al.
Cerebellum (London, England)|April 25, 2018
A Japanese Family of Spinocerebellar Ataxia Type 21: Clinical and Neuropathological StudiesHiroyuki Yahikozawa, Satoko Miyatake, Toshiaki Sakai, et al.
Seizure|January 27, 2019
Different types of suppression-burst patterns in patients with epilepsy of infancy with migrating focal seizures (EIMFS)Shinsaku Yoshitomi, Yukitoshi Takahashi, Katsumi Imai, 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.
Asian Journal of Endoscopic Surgery|December 7, 2023
Potential risks associated with laparoscopic gastrostomy in patients with the COL4A1 variant: Two case reportsKoichi Deguchi, Ryuta Saka, Marie Todo, et al.
Internal Medicine (Tokyo, Japan)|July 17, 2013
Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegiaHiroshi Doi, Chihiro Ohba, Yoshinori Tsurusaki, et al.
BMC Neurology|October 29, 2019
Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case reportKouhei Den, Yosuke Kudo, Mitsuhiro Kato, et al.
Journal of Human Genetics|July 5, 2019
Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1Ken Saida, Chong Ae Kim, José Ricardo Magliocco Ceroni, et al.
Scientific Reports|March 10, 2016
Ultra-sensitive droplet digital PCR for detecting a low-prevalence somatic GNAQ mutation in Sturge-Weber syndromeYuri Uchiyama, Mitsuko Nakashima, Satoshi Watanabe, et al.
Pageof 22

Showing results (71-80 of 212) with videos related to

Sort By:
Pageof 22
Journal of Human Genetics|August 17, 2023
Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipationTakeshi Mizuguchi, Tomoko Toyota, Eriko Koshimizu, et al.
Journal of Human Genetics|February 15, 2019
A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencingTakeshi Mizuguchi, Takeshi Suzuki, Chihiro Abe, et al.
Cerebellum (London, England)|April 25, 2018
A Japanese Family of Spinocerebellar Ataxia Type 21: Clinical and Neuropathological StudiesHiroyuki Yahikozawa, Satoko Miyatake, Toshiaki Sakai, et al.
Seizure|January 27, 2019
Different types of suppression-burst patterns in patients with epilepsy of infancy with migrating focal seizures (EIMFS)Shinsaku Yoshitomi, Yukitoshi Takahashi, Katsumi Imai, 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.
Asian Journal of Endoscopic Surgery|December 7, 2023
Potential risks associated with laparoscopic gastrostomy in patients with the COL4A1 variant: Two case reportsKoichi Deguchi, Ryuta Saka, Marie Todo, et al.
Internal Medicine (Tokyo, Japan)|July 17, 2013
Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegiaHiroshi Doi, Chihiro Ohba, Yoshinori Tsurusaki, et al.
BMC Neurology|October 29, 2019
Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case reportKouhei Den, Yosuke Kudo, Mitsuhiro Kato, et al.
Journal of Human Genetics|July 5, 2019
Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1Ken Saida, Chong Ae Kim, José Ricardo Magliocco Ceroni, et al.
Scientific Reports|March 10, 2016
Ultra-sensitive droplet digital PCR for detecting a low-prevalence somatic GNAQ mutation in Sturge-Weber syndromeYuri Uchiyama, Mitsuko Nakashima, Satoshi Watanabe, et al.
Pageof 22