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Shino Shimada

Showing results (21-30 of 45) with videos related to

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Human Genome Variation|April 16, 2016
MLC1 mutations in Japanese patients with megalencephalic leukoencephalopathy with subcortical cystsShino Shimada, Keiko Shimojima, Teruaki Masuda, et al.
Molecular Genetics and Metabolism Reports|October 27, 2025
Siblings of FBXL4-related mitochondrial DNA depletion syndrome, leading to fatal fulminant pneumoniaTakato Akiba, Shino Shimada, Shimpei Matsuda, et al.
Taiwanese Journal of Obstetrics & Gynecology|March 11, 2026
Clinical significance of low-frequency mosaic thresholds (45,X/46,XX/47,XXX) in adulthood: A case reportKeiko Goto-Hirano, Yuri Kitamura, Yoshiteru Arai, et al.
American Journal of Medical Genetics. Part A|March 7, 2013
Interstitial duplication of 2q32.1-q33.3 in a patient with epilepsy, developmental delay, and autistic behaviorDaisuke Usui, Shino Shimada, Keiko Shimojima, et al.
Gene|September 14, 2013
A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancyAtsushi Ishii, Mutsuki Shioda, Akihisa Okumura, et al.
Gene|July 10, 2012
A de novo interstitial deletion of 8p11.2 including ANK1 identified in a patient with spherocytosis, psychomotor developmental delay, and distinctive facial featuresKazushi Miya, Keiko Shimojima, Midori Sugawara, et al.
Journal of Human Genetics|June 26, 2015
Novel compound heterozygous LIAS mutations cause glycine encephalopathyYoshinori Tsurusaki, Ryuta Tanaka, Shino Shimada, et al.
Brain & Development|August 11, 2012
MECP2 duplication syndrome in both gendersShino Shimada, Nobuhiko Okamoto, Masahiro Ito, et al.
Brain & Development|June 3, 2018
An episode of acute encephalopathy with biphasic seizures and late reduced diffusion followed by hemiplegia and intractable epilepsy observed in a patient with a novel frameshift mutation in HNRNPUShino Shimada, Hirokazu Oguni, Yui Otani, et al.
Journal of Human Genetics|March 21, 2014
An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalitiesToshiyuki Yamamoto, Anna Wilsdon, Shelagh Joss, et al.
Pageof 5

Showing results (21-30 of 45) with videos related to

Sort By:
Pageof 5
Human Genome Variation|April 16, 2016
MLC1 mutations in Japanese patients with megalencephalic leukoencephalopathy with subcortical cystsShino Shimada, Keiko Shimojima, Teruaki Masuda, et al.
Molecular Genetics and Metabolism Reports|October 27, 2025
Siblings of FBXL4-related mitochondrial DNA depletion syndrome, leading to fatal fulminant pneumoniaTakato Akiba, Shino Shimada, Shimpei Matsuda, et al.
Taiwanese Journal of Obstetrics & Gynecology|March 11, 2026
Clinical significance of low-frequency mosaic thresholds (45,X/46,XX/47,XXX) in adulthood: A case reportKeiko Goto-Hirano, Yuri Kitamura, Yoshiteru Arai, et al.
American Journal of Medical Genetics. Part A|March 7, 2013
Interstitial duplication of 2q32.1-q33.3 in a patient with epilepsy, developmental delay, and autistic behaviorDaisuke Usui, Shino Shimada, Keiko Shimojima, et al.
Gene|September 14, 2013
A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancyAtsushi Ishii, Mutsuki Shioda, Akihisa Okumura, et al.
Gene|July 10, 2012
A de novo interstitial deletion of 8p11.2 including ANK1 identified in a patient with spherocytosis, psychomotor developmental delay, and distinctive facial featuresKazushi Miya, Keiko Shimojima, Midori Sugawara, et al.
Journal of Human Genetics|June 26, 2015
Novel compound heterozygous LIAS mutations cause glycine encephalopathyYoshinori Tsurusaki, Ryuta Tanaka, Shino Shimada, et al.
Brain & Development|August 11, 2012
MECP2 duplication syndrome in both gendersShino Shimada, Nobuhiko Okamoto, Masahiro Ito, et al.
Brain & Development|June 3, 2018
An episode of acute encephalopathy with biphasic seizures and late reduced diffusion followed by hemiplegia and intractable epilepsy observed in a patient with a novel frameshift mutation in HNRNPUShino Shimada, Hirokazu Oguni, Yui Otani, et al.
Journal of Human Genetics|March 21, 2014
An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalitiesToshiyuki Yamamoto, Anna Wilsdon, Shelagh Joss, et al.
Pageof 5