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Sachiko Miyamoto

Showing results (21-30 of 33) with videos related to

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Child Neurology Open|October 18, 2021
Novel <i>HSD17B4</i> Variants Cause Progressive Leukodystrophy in Childhood: Case Report and Literature ReviewAkiyo Yamamoto, Shinobu Fukumura, Yumi Habata, et al.
Journal of Human Genetics|October 18, 2022
A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcomeTakuya Hiraide, Tenpei Akita, Kenji Uematsu, et al.
Brain & Development|April 8, 2021
SCN8A-related developmental and epileptic encephalopathy with ictal asystole requiring cardiac pacemaker implantationYutaka Negishi, Yusuke Aoki, Kazuya Itomi, et al.
Biochemical and Biophysical Research Communications|March 18, 2008
Identification of Glypican3 as a novel GLUT4-binding proteinAkihiko Taguchi, Masahiro Emoto, Shigeru Okuya, et al.
European Journal of Endocrinology|March 31, 2026
Novel HK1 intronic variant in congenital hyperinsulinism: impaired transactivation function for FOXA2Kaori Yamoto, Sachiko Miyamoto, Shinichiro Sano, et al.
Plos One|June 1, 2026
Physical activity and sedentary behavior surveillance using accelerometers in Japanese urban adults: A descriptive study of participation and adherenceNaruki Kitano, Ryoko Kawakami, Yuya Fujii, et al.
Journal of Human Genetics|January 6, 2026
Identification of 5' untranslated region variants in genes involved in neurodevelopmental disordersTaiju Hayashi, Sachiko Miyamoto, Yusaku Endo, et al.
Brain & Development|July 8, 2026
Recurrent RNU4-2 n.64_65insT variant in ReNU syndrome identified in exome-negative casesTakuya Hiraide, Kenji Shimizu, Taiju Hayashi, et al.
Molecular Genetics & Genomic Medicine|June 25, 2019
A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelinationSachiko Miyamoto, Mitsuko Nakashima, Tsukasa Ohashi, et al.
Journal of Human Genetics|December 15, 2023
RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicingRyota Kawakami, Takuya Hiraide, Kazuki Watanabe, et al.
Pageof 4

Showing results (21-30 of 33) with videos related to

Sort By:
Pageof 4
Child Neurology Open|October 18, 2021
Novel <i>HSD17B4</i> Variants Cause Progressive Leukodystrophy in Childhood: Case Report and Literature ReviewAkiyo Yamamoto, Shinobu Fukumura, Yumi Habata, et al.
Journal of Human Genetics|October 18, 2022
A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcomeTakuya Hiraide, Tenpei Akita, Kenji Uematsu, et al.
Brain & Development|April 8, 2021
SCN8A-related developmental and epileptic encephalopathy with ictal asystole requiring cardiac pacemaker implantationYutaka Negishi, Yusuke Aoki, Kazuya Itomi, et al.
Biochemical and Biophysical Research Communications|March 18, 2008
Identification of Glypican3 as a novel GLUT4-binding proteinAkihiko Taguchi, Masahiro Emoto, Shigeru Okuya, et al.
European Journal of Endocrinology|March 31, 2026
Novel HK1 intronic variant in congenital hyperinsulinism: impaired transactivation function for FOXA2Kaori Yamoto, Sachiko Miyamoto, Shinichiro Sano, et al.
Plos One|June 1, 2026
Physical activity and sedentary behavior surveillance using accelerometers in Japanese urban adults: A descriptive study of participation and adherenceNaruki Kitano, Ryoko Kawakami, Yuya Fujii, et al.
Journal of Human Genetics|January 6, 2026
Identification of 5' untranslated region variants in genes involved in neurodevelopmental disordersTaiju Hayashi, Sachiko Miyamoto, Yusaku Endo, et al.
Brain & Development|July 8, 2026
Recurrent RNU4-2 n.64_65insT variant in ReNU syndrome identified in exome-negative casesTakuya Hiraide, Kenji Shimizu, Taiju Hayashi, et al.
Molecular Genetics & Genomic Medicine|June 25, 2019
A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelinationSachiko Miyamoto, Mitsuko Nakashima, Tsukasa Ohashi, et al.
Journal of Human Genetics|December 15, 2023
RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicingRyota Kawakami, Takuya Hiraide, Kazuki Watanabe, et al.
Pageof 4