Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Shino Shimada

Showing results (11-20 of 45) with videos related to

Pageof 5
Sort By:
Human Genome Variation|April 16, 2016
A novel KCNT1 mutation in a Japanese patient with epilepsy of infancy with migrating focal seizuresShino Shimada, Yoshiko Hirano, Susumu Ito, et al.
Molecular Cytogenetics|April 5, 2013
De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial featuresToshiyuki Yamamoto, Mari Matsuo, Shino Shimada, et al.
Congenital Anomalies|April 10, 2014
Novel nucleotide mutation leading to a recurrent amino acid alteration in SH3BP2 in a patient with cherubismNoriko Sangu, Tsuyoshi Shimosato, Hirosato Inoda, et al.
Brain & Development|May 23, 2013
Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelinationKeiko Shimojima, Shino Shimada, Akiko Tamasaki, et al.
Journal of the Neurological Sciences|March 23, 2015
Megalencephalic leukoencephalopathy with subcortical cysts caused by compound heterozygous mutations in MLC1, in patients with and without subcortical cysts in the brainTeruaki Masuda, Mitsuharu Ueda, Hidetsugu Ueyama, et al.
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|June 9, 2012
An unmasked mutation of EIF2B2 due to submicroscopic deletion of 14q24.3 in a patient with vanishing white matter diseaseShino Shimada, Kazushi Miya, Nozomi Oda, et al.
Human Genome Variation|September 3, 2025
A case of Dravet syndrome with a novel SCN1A gross deletion involving the promoter regionEri Nakahara Sakamoto, Shino Shimada, Tokito Yamaguchi, et al.
American Journal of Medical Genetics. Part A|August 29, 2018
Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndromeShino Shimada, Kyoko Hirasawa, Akiko Takeshita, et al.
American Journal of Medical Genetics. Part A|May 25, 2013
Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patientsShino Shimada, Nobuhiko Okamoto, Kyoko Hirasawa, et al.
Pageof 5

Showing results (11-20 of 45) with videos related to

Sort By:
Pageof 5
Human Genome Variation|April 16, 2016
A novel KCNT1 mutation in a Japanese patient with epilepsy of infancy with migrating focal seizuresShino Shimada, Yoshiko Hirano, Susumu Ito, et al.
Molecular Cytogenetics|April 5, 2013
De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial featuresToshiyuki Yamamoto, Mari Matsuo, Shino Shimada, et al.
Congenital Anomalies|April 10, 2014
Novel nucleotide mutation leading to a recurrent amino acid alteration in SH3BP2 in a patient with cherubismNoriko Sangu, Tsuyoshi Shimosato, Hirosato Inoda, et al.
Brain & Development|May 23, 2013
Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelinationKeiko Shimojima, Shino Shimada, Akiko Tamasaki, et al.
Journal of the Neurological Sciences|March 23, 2015
Megalencephalic leukoencephalopathy with subcortical cysts caused by compound heterozygous mutations in MLC1, in patients with and without subcortical cysts in the brainTeruaki Masuda, Mitsuharu Ueda, Hidetsugu Ueyama, et al.
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|June 9, 2012
An unmasked mutation of EIF2B2 due to submicroscopic deletion of 14q24.3 in a patient with vanishing white matter diseaseShino Shimada, Kazushi Miya, Nozomi Oda, et al.
Human Genome Variation|September 3, 2025
A case of Dravet syndrome with a novel SCN1A gross deletion involving the promoter regionEri Nakahara Sakamoto, Shino Shimada, Tokito Yamaguchi, et al.
American Journal of Medical Genetics. Part A|August 29, 2018
Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndromeShino Shimada, Kyoko Hirasawa, Akiko Takeshita, et al.
American Journal of Medical Genetics. Part A|May 25, 2013
Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patientsShino Shimada, Nobuhiko Okamoto, Kyoko Hirasawa, et al.
Pageof 5