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Keiko Shimojima

Showing results (81-90 of 142) with videos related to

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Human Genome Variation|April 16, 2016
Clinical impacts of genomic copy number gains at Xq28Toshiyuki Yamamoto, Keiko Shimojima, Shino Shimada, et al.
American Journal of Medical Genetics. Part A|January 18, 2018
Somatic mosaic deletions involving SCN1A cause Dravet syndromeTojo Nakayama, Atsushi Ishii, Takeshi Yoshida, et al.
Brain & Development|May 19, 2015
White matter abnormalities in an adult patient with l-2-hydroxyglutaric aciduriaToshiyuki Yamamoto, Seiichiro Yoshioka, Yoshinori Tsurusaki, et al.
Orphanet Journal of Rare Diseases|June 23, 2011
9q22 Deletion--first familial caseLinda Siggberg, Maarit Peippo, Marjatta Sipponen, et al.
American Journal of Medical Genetics. Part A|April 2, 2010
Severe pulmonary emphysema in a girl with interstitial deletion of 2q24.2q24.3 including ITGB6Shinichi Takatsuki, Rina Nakamura, Youichi Haga, et al.
Pediatric Neurology|August 28, 2014
Clinical course and images of four familial cases of Allan-Herndon-Dudley syndrome with a novel monocarboxylate transporter 8 gene mutationSatoru Kobayashi, Akira Onuma, Takehiko Inui, 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.
Human Genome Variation|April 16, 2016
MLC1 mutations in Japanese patients with megalencephalic leukoencephalopathy with subcortical cystsShino Shimada, Keiko Shimojima, Teruaki Masuda, et al.
Early Human Development|October 12, 2010
Altered gene expression in umbilical cord mononuclear cells in preterm infants with periventricular leukomalaciaAkihisa Okumura, Toshiyuki Yamamoto, Hiroyuki Kidokoro, et al.
Epilepsy Research|March 16, 2010
Genomic copy number variations at 17p13.3 and epileptogenesisKeiko Shimojima, Chitose Sugiura, Hiroka Takahashi, et al.
Pageof 15

Showing results (81-90 of 142) with videos related to

Sort By:
Pageof 15
Human Genome Variation|April 16, 2016
Clinical impacts of genomic copy number gains at Xq28Toshiyuki Yamamoto, Keiko Shimojima, Shino Shimada, et al.
American Journal of Medical Genetics. Part A|January 18, 2018
Somatic mosaic deletions involving SCN1A cause Dravet syndromeTojo Nakayama, Atsushi Ishii, Takeshi Yoshida, et al.
Brain & Development|May 19, 2015
White matter abnormalities in an adult patient with l-2-hydroxyglutaric aciduriaToshiyuki Yamamoto, Seiichiro Yoshioka, Yoshinori Tsurusaki, et al.
Orphanet Journal of Rare Diseases|June 23, 2011
9q22 Deletion--first familial caseLinda Siggberg, Maarit Peippo, Marjatta Sipponen, et al.
American Journal of Medical Genetics. Part A|April 2, 2010
Severe pulmonary emphysema in a girl with interstitial deletion of 2q24.2q24.3 including ITGB6Shinichi Takatsuki, Rina Nakamura, Youichi Haga, et al.
Pediatric Neurology|August 28, 2014
Clinical course and images of four familial cases of Allan-Herndon-Dudley syndrome with a novel monocarboxylate transporter 8 gene mutationSatoru Kobayashi, Akira Onuma, Takehiko Inui, 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.
Human Genome Variation|April 16, 2016
MLC1 mutations in Japanese patients with megalencephalic leukoencephalopathy with subcortical cystsShino Shimada, Keiko Shimojima, Teruaki Masuda, et al.
Early Human Development|October 12, 2010
Altered gene expression in umbilical cord mononuclear cells in preterm infants with periventricular leukomalaciaAkihisa Okumura, Toshiyuki Yamamoto, Hiroyuki Kidokoro, et al.
Epilepsy Research|March 16, 2010
Genomic copy number variations at 17p13.3 and epileptogenesisKeiko Shimojima, Chitose Sugiura, Hiroka Takahashi, et al.
Pageof 15