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Satoko Miyatake

Showing results (61-70 of 212) with videos related to

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Genomics|July 17, 2024
Complex chromosomal 6q rearrangements revealed by combined long-molecule genomics technologiesSachiko Ohori, Hironao Numabe, Satomi Mitsuhashi, et al.
Epilepsy & Behavior Reports|December 28, 2019
Epilepsy in Christianson syndrome: Two cases of Lennox-Gastaut syndrome and a review of literatureAzusa Ikeda, Ayako Yamamoto, Kazushi Ichikawa, et al.
Human Genome Variation|December 10, 2020
Hemizygous FLNA variant in West syndrome without periventricular nodular heterotopiaYoshitaka Hiromoto, Yoshiteru Azuma, Yuichi Suzuki, et al.
Journal of Human Genetics|July 21, 2017
An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelinationGaku Minase, Satoko Miyatake, Shin Nabatame, et al.
American Journal of Medical Genetics. Part A|December 21, 2018
SOFT syndrome in a patient from ChileKen Saida, Sebastian Silva, Benjamin Solar, et al.
Human Genome Variation|August 14, 2024
Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case reportKenta Hanada, Yusuke Osaki, Ryosuke Miyamoto, et al.
Journal of Human Genetics|January 11, 2019
A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21Takeshi Mizuguchi, Mitsuko Nakashima, Lip H Moey, et al.
Epilepsia|November 28, 2015
De novo DNM1 mutations in two cases of epileptic encephalopathyMitsuko Nakashima, Takeshi Kouga, Charles Marques Lourenço, et al.
Journal of Human Genetics|March 2, 2018
A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxiaHiroyuki Fukuda, Eri Imagawa, Kohei Hamanaka, et al.
Neuromuscular Disorders : NMD|May 24, 2014
Deep sequencing detects very-low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathySatoko Miyatake, Eriko Koshimizu, Yukiko K Hayashi, et al.
Pageof 22

Showing results (61-70 of 212) with videos related to

Sort By:
Pageof 22
Genomics|July 17, 2024
Complex chromosomal 6q rearrangements revealed by combined long-molecule genomics technologiesSachiko Ohori, Hironao Numabe, Satomi Mitsuhashi, et al.
Epilepsy & Behavior Reports|December 28, 2019
Epilepsy in Christianson syndrome: Two cases of Lennox-Gastaut syndrome and a review of literatureAzusa Ikeda, Ayako Yamamoto, Kazushi Ichikawa, et al.
Human Genome Variation|December 10, 2020
Hemizygous FLNA variant in West syndrome without periventricular nodular heterotopiaYoshitaka Hiromoto, Yoshiteru Azuma, Yuichi Suzuki, et al.
Journal of Human Genetics|July 21, 2017
An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelinationGaku Minase, Satoko Miyatake, Shin Nabatame, et al.
American Journal of Medical Genetics. Part A|December 21, 2018
SOFT syndrome in a patient from ChileKen Saida, Sebastian Silva, Benjamin Solar, et al.
Human Genome Variation|August 14, 2024
Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case reportKenta Hanada, Yusuke Osaki, Ryosuke Miyamoto, et al.
Journal of Human Genetics|January 11, 2019
A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21Takeshi Mizuguchi, Mitsuko Nakashima, Lip H Moey, et al.
Epilepsia|November 28, 2015
De novo DNM1 mutations in two cases of epileptic encephalopathyMitsuko Nakashima, Takeshi Kouga, Charles Marques Lourenço, et al.
Journal of Human Genetics|March 2, 2018
A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxiaHiroyuki Fukuda, Eri Imagawa, Kohei Hamanaka, et al.
Neuromuscular Disorders : NMD|May 24, 2014
Deep sequencing detects very-low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathySatoko Miyatake, Eriko Koshimizu, Yukiko K Hayashi, et al.
Pageof 22