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Satoko Miyatake

Showing results (101-110 of 212) with videos related to

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Journal of Human Genetics|September 11, 2015
De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbanceChihiro Ohba, Kazuhiro Haginoya, Hitoshi Osaka, et al.
Annals of Neurology|November 15, 2018
Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndromeAtsushi Fujita, Hiroyasu Tsukaguchi, Eriko Koshimizu, et al.
Human Molecular Genetics|September 18, 2014
Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca²⁺ channelsYukari Endo, Satoru Noguchi, Yuji Hara, et al.
The EMBO Journal|March 12, 2017
MTCL1 plays an essential role in maintaining Purkinje neuron axon initial segmentTomoko Satake, Kazunari Yamashita, Kenji Hayashi, et al.
Journal of Human Genetics|January 23, 2015
Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approachSatoko Miyatake, Eriko Koshimizu, Atsushi Fujita, et al.
Disease Models & Mechanisms|January 20, 2025
KNTC1 introduces segmental heterogeneity to mitochondriaAtsushi Tsukamura, Hirotaka Ariyama, Natsuki Hayashi, et al.
Journal of Neurology|July 30, 2024
A family with neuronal intranuclear inclusion disease with focal segmental glomerulosclerosisKazuki Watanabe, Tomoyasu Bunai, Masamune Sakamoto, et al.
Neurology|May 23, 2014
Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathiesSatoko Miyatake, Hitoshi Osaka, Masaaki Shiina, et al.
Journal of Human Genetics|July 7, 2021
Novel CLTC variants cause new brain and kidney phenotypesToshiyuki Itai, Satoko Miyatake, Naomi Tsuchida, et al.
Journal of Human Genetics|May 2, 2025
Hemizygous SMARCA1 variants cause X-linked intellectual disabilityNaoto Nishimura, Takeshi Mizuguchi, Keisuke Hamada, et al.
Pageof 22

Showing results (101-110 of 212) with videos related to

Sort By:
Pageof 22
Journal of Human Genetics|September 11, 2015
De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbanceChihiro Ohba, Kazuhiro Haginoya, Hitoshi Osaka, et al.
Annals of Neurology|November 15, 2018
Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndromeAtsushi Fujita, Hiroyasu Tsukaguchi, Eriko Koshimizu, et al.
Human Molecular Genetics|September 18, 2014
Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca²⁺ channelsYukari Endo, Satoru Noguchi, Yuji Hara, et al.
The EMBO Journal|March 12, 2017
MTCL1 plays an essential role in maintaining Purkinje neuron axon initial segmentTomoko Satake, Kazunari Yamashita, Kenji Hayashi, et al.
Journal of Human Genetics|January 23, 2015
Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approachSatoko Miyatake, Eriko Koshimizu, Atsushi Fujita, et al.
Disease Models & Mechanisms|January 20, 2025
KNTC1 introduces segmental heterogeneity to mitochondriaAtsushi Tsukamura, Hirotaka Ariyama, Natsuki Hayashi, et al.
Journal of Neurology|July 30, 2024
A family with neuronal intranuclear inclusion disease with focal segmental glomerulosclerosisKazuki Watanabe, Tomoyasu Bunai, Masamune Sakamoto, et al.
Neurology|May 23, 2014
Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathiesSatoko Miyatake, Hitoshi Osaka, Masaaki Shiina, et al.
Journal of Human Genetics|July 7, 2021
Novel CLTC variants cause new brain and kidney phenotypesToshiyuki Itai, Satoko Miyatake, Naomi Tsuchida, et al.
Journal of Human Genetics|May 2, 2025
Hemizygous SMARCA1 variants cause X-linked intellectual disabilityNaoto Nishimura, Takeshi Mizuguchi, Keisuke Hamada, et al.
Pageof 22