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Mitsuko Nakashima

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Journal of Human Genetics|January 19, 2019
Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizuresMitsuko Nakashima, Jun Tohyama, Eiji Nakagawa, et al.
Annals of General Psychiatry|August 16, 2014
Duplication of the NPHP1 gene in patients with autism spectrum disorder and normal intellectual ability: a case seriesYuka Yasuda, Ryota Hashimoto, Ryoko Fukai, et al.
Human Genome Variation|July 21, 2021
A novel LRP6 variant in a Japanese family with oligodontiaHiroki Goto, Masashi Kimura, Junichiro Machida, 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.
Brain : a Journal of Neurology|September 27, 2018
De novo PHACTR1 mutations in West syndrome and their pathophysiological effectsNanako Hamada, Shunsuke Ogaya, Mitsuko Nakashima, et al.
Neurology|May 23, 2014
Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathiesSatoko Miyatake, Hitoshi Osaka, Masaaki Shiina, et al.
European Journal of Human Genetics : EJHG|June 23, 2026
Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorderKazuyuki Komatsu, Atsushi Sugie, Yohei Nitta, et al.
Journal of Human Genetics|January 15, 2016
De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotoniaRyoko Fukai, Hirotomo Saitsu, Nobuhiko Okamoto, et al.
Human Mutation|May 17, 2018
De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathyHazrat Belal, Mitsuko Nakashima, Hiroshi Matsumoto, et al.
American Journal of Medical Genetics. Part A|December 20, 2013
Aortic aneurysm and craniosynostosis in a family with Cantu syndromeYoko Hiraki, Satoko Miyatake, Michiko Hayashidani, et al.
Pageof 21

Showing results (131-140 of 208) with videos related to

Sort By:
Pageof 21
Journal of Human Genetics|January 19, 2019
Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizuresMitsuko Nakashima, Jun Tohyama, Eiji Nakagawa, et al.
Annals of General Psychiatry|August 16, 2014
Duplication of the NPHP1 gene in patients with autism spectrum disorder and normal intellectual ability: a case seriesYuka Yasuda, Ryota Hashimoto, Ryoko Fukai, et al.
Human Genome Variation|July 21, 2021
A novel LRP6 variant in a Japanese family with oligodontiaHiroki Goto, Masashi Kimura, Junichiro Machida, 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.
Brain : a Journal of Neurology|September 27, 2018
De novo PHACTR1 mutations in West syndrome and their pathophysiological effectsNanako Hamada, Shunsuke Ogaya, Mitsuko Nakashima, et al.
Neurology|May 23, 2014
Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathiesSatoko Miyatake, Hitoshi Osaka, Masaaki Shiina, et al.
European Journal of Human Genetics : EJHG|June 23, 2026
Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorderKazuyuki Komatsu, Atsushi Sugie, Yohei Nitta, et al.
Journal of Human Genetics|January 15, 2016
De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotoniaRyoko Fukai, Hirotomo Saitsu, Nobuhiko Okamoto, et al.
Human Mutation|May 17, 2018
De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathyHazrat Belal, Mitsuko Nakashima, Hiroshi Matsumoto, et al.
American Journal of Medical Genetics. Part A|December 20, 2013
Aortic aneurysm and craniosynostosis in a family with Cantu syndromeYoko Hiraki, Satoko Miyatake, Michiko Hayashidani, et al.
Pageof 21