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Keiko Shimojima

Showing results (41-50 of 142) with videos related to

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Genomics|July 19, 2015
CHCHD2 is down-regulated in neuronal cells differentiated from iPS cells derived from patients with lissencephalyKeiko Shimojima, Akihisa Okumura, Masaharu Hayashi, et al.
Intractable & Rare Diseases Research|September 28, 2016
Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndromeKeiko Shimojima, Koichi Maruyama, Masahiro Kikuchi, et al.
American Journal of Medical Genetics. Part A|January 5, 2011
Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6Toshiyuki Yamamoto, Keiko Shimojima, Tsutomu Nishizawa, et al.
American Journal of Medical Genetics. Part A|January 5, 2011
Two concurrent chromosomal aberrations involving interstitial deletion in 1q24.2q25.2 and inverted duplication and deletion in 10q26 in a patient with stroke associated with antithrombin deficiency and a patent foramen ovaleTetsuya Kibe, Yuka Mori, Tohru Okanishi, et al.
Human Genome Variation|June 9, 2016
A de novo microdeletion in a patient with inner ear abnormalities suggests that the 10q26.13 region contains the responsible geneNoriko Sangu, Nobuhiko Okamoto, Keiko Shimojima, et al.
BMC Research Notes|July 24, 2014
Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case reportKeiko Shimojima, Aya Narita, Yoshihiro Maegaki, et al.
American Journal of Medical Genetics. Part A|July 17, 2010
Co-occurrence of Prader-Willi and Sotos syndromesNobuhiko Okamoto, Noriko Akimaru, Keiko Matsuda, et al.
Human Genome Variation|April 16, 2016
SLC16A2 mutations in two Japanese patients with Allan-Herndon-Dudley syndromeToshiyuki Yamamoto, Keiko Shimojima, Ayako Umemura, et al.
American Journal of Medical Genetics. Part A|March 5, 2015
An association of 19p13.2 microdeletions with Malan syndrome and Chiari malformationKeiko Shimojima, Nobuhiko Okamoto, Akiko Tamasaki, et al.
American Journal of Medical Genetics. Part A|December 21, 2013
Narrowing of the responsible region for severe developmental delay and autistic behaviors in WAGR syndrome down to 1.6 Mb including PAX6, WT1, and PRRG4Toshiyuki Yamamoto, Masami Togawa, Shino Shimada, et al.
Pageof 15

Showing results (41-50 of 142) with videos related to

Sort By:
Pageof 15
Genomics|July 19, 2015
CHCHD2 is down-regulated in neuronal cells differentiated from iPS cells derived from patients with lissencephalyKeiko Shimojima, Akihisa Okumura, Masaharu Hayashi, et al.
Intractable & Rare Diseases Research|September 28, 2016
Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndromeKeiko Shimojima, Koichi Maruyama, Masahiro Kikuchi, et al.
American Journal of Medical Genetics. Part A|January 5, 2011
Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6Toshiyuki Yamamoto, Keiko Shimojima, Tsutomu Nishizawa, et al.
American Journal of Medical Genetics. Part A|January 5, 2011
Two concurrent chromosomal aberrations involving interstitial deletion in 1q24.2q25.2 and inverted duplication and deletion in 10q26 in a patient with stroke associated with antithrombin deficiency and a patent foramen ovaleTetsuya Kibe, Yuka Mori, Tohru Okanishi, et al.
Human Genome Variation|June 9, 2016
A de novo microdeletion in a patient with inner ear abnormalities suggests that the 10q26.13 region contains the responsible geneNoriko Sangu, Nobuhiko Okamoto, Keiko Shimojima, et al.
BMC Research Notes|July 24, 2014
Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case reportKeiko Shimojima, Aya Narita, Yoshihiro Maegaki, et al.
American Journal of Medical Genetics. Part A|July 17, 2010
Co-occurrence of Prader-Willi and Sotos syndromesNobuhiko Okamoto, Noriko Akimaru, Keiko Matsuda, et al.
Human Genome Variation|April 16, 2016
SLC16A2 mutations in two Japanese patients with Allan-Herndon-Dudley syndromeToshiyuki Yamamoto, Keiko Shimojima, Ayako Umemura, et al.
American Journal of Medical Genetics. Part A|March 5, 2015
An association of 19p13.2 microdeletions with Malan syndrome and Chiari malformationKeiko Shimojima, Nobuhiko Okamoto, Akiko Tamasaki, et al.
American Journal of Medical Genetics. Part A|December 21, 2013
Narrowing of the responsible region for severe developmental delay and autistic behaviors in WAGR syndrome down to 1.6 Mb including PAX6, WT1, and PRRG4Toshiyuki Yamamoto, Masami Togawa, Shino Shimada, et al.
Pageof 15