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Satoko Miyatake

Showing results (11-20 of 212) with videos related to

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American Journal of Medical Genetics. Part A|March 7, 2013
A de novo deletion at 16q24.3 involving ANKRD11 in a Japanese patient with KBG syndromeSatoko Miyatake, Akira Murakami, Nobuhiko Okamoto, et al.
Brain & Development|October 22, 2021
Polymicrogyria in a child with KCNMA1-related channelopathyDenis Graber, Eri Imagawa, Noriko Miyake, et al.
Internal Medicine (Tokyo, Japan)|August 16, 2012
A novel SACS mutation in an atypical case with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)Satoko Miyatake, Noriko Miyake, Hiroshi Doi, et al.
Cureus|March 17, 2025
A Case of Nebulin-Related Nemaline Myopathy With Asymmetric Distal Lower Limb WeaknessHironori Mizutani, Yohei Misumi, Kohei Hamanaka, et al.
Internal Medicine (Tokyo, Japan)|July 2, 2008
Mental retardation and lifetime events of Duchenne muscular dystrophy in JapanHitoshi Mochizuki, Satoko Miyatake, Mikiya Suzuki, et al.
Neuropediatrics|January 30, 2019
The Persistent Generalized Muscle Contraction in Siblings with Molybdenum Cofactor Deficiency Type AAyumi Yoshimura, Tetsuya Kibe, Hiroshi Hasegawa, et al.
Plos One|September 26, 2013
Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with autism spectrum disorderEriko Koshimizu, Satoko Miyatake, Nobuhiko Okamoto, et al.
American Journal of Medical Genetics. Part A|March 26, 2019
A Japanese patient with RAD51-associated Fanconi anemiaSatoshi Takenaka, Yukiko Kuroda, Sayaka Ohta, et al.
Human Genome Variation|November 16, 2017
A novel <i>DARS2</i> mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevationKeiko Shimojima, Takafumi Higashiguchi, Kanako Kishimoto, et al.
Journal of the Neurological Sciences|May 1, 2012
Selective muscle involvement in a family affected by a second LIM domain mutation of fhl1: an imaging study using computed tomographyTomoko Komagamine, Mitsuru Kawai, Norito Kokubun, et al.
Pageof 22

Showing results (11-20 of 212) with videos related to

Sort By:
Pageof 22
American Journal of Medical Genetics. Part A|March 7, 2013
A de novo deletion at 16q24.3 involving ANKRD11 in a Japanese patient with KBG syndromeSatoko Miyatake, Akira Murakami, Nobuhiko Okamoto, et al.
Brain & Development|October 22, 2021
Polymicrogyria in a child with KCNMA1-related channelopathyDenis Graber, Eri Imagawa, Noriko Miyake, et al.
Internal Medicine (Tokyo, Japan)|August 16, 2012
A novel SACS mutation in an atypical case with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)Satoko Miyatake, Noriko Miyake, Hiroshi Doi, et al.
Cureus|March 17, 2025
A Case of Nebulin-Related Nemaline Myopathy With Asymmetric Distal Lower Limb WeaknessHironori Mizutani, Yohei Misumi, Kohei Hamanaka, et al.
Internal Medicine (Tokyo, Japan)|July 2, 2008
Mental retardation and lifetime events of Duchenne muscular dystrophy in JapanHitoshi Mochizuki, Satoko Miyatake, Mikiya Suzuki, et al.
Neuropediatrics|January 30, 2019
The Persistent Generalized Muscle Contraction in Siblings with Molybdenum Cofactor Deficiency Type AAyumi Yoshimura, Tetsuya Kibe, Hiroshi Hasegawa, et al.
Plos One|September 26, 2013
Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with autism spectrum disorderEriko Koshimizu, Satoko Miyatake, Nobuhiko Okamoto, et al.
American Journal of Medical Genetics. Part A|March 26, 2019
A Japanese patient with RAD51-associated Fanconi anemiaSatoshi Takenaka, Yukiko Kuroda, Sayaka Ohta, et al.
Human Genome Variation|November 16, 2017
A novel <i>DARS2</i> mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevationKeiko Shimojima, Takafumi Higashiguchi, Kanako Kishimoto, et al.
Journal of the Neurological Sciences|May 1, 2012
Selective muscle involvement in a family affected by a second LIM domain mutation of fhl1: an imaging study using computed tomographyTomoko Komagamine, Mitsuru Kawai, Norito Kokubun, et al.
Pageof 22