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

Noriko Sangu

Showing results (11-20 of 21) with videos related to

Pageof 3
Sort By:
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.
Congenital Anomalies|July 25, 2015
Use of targeted next-generation sequencing for molecular diagnosis of craniosynostosis: Identification of a novel de novo mutation of EFNB1Toshiyuki Yamamoto, Naru Igarashi, Keiko Shimojima, et al.
Journal of the Neurological Sciences|May 21, 2013
A novel homozygous mutation of GJC2 derived from maternal uniparental disomy in a female patient with Pelizaeus-Merzbacher-like diseaseKeiko Shimojima, Ryuta Tanaka, Shino Shimada, et al.
Regenerative Therapy|March 4, 2026
Genomic analysis of dental pulp mesenchymal stromal cells for therapeutic applicationsKunio Hirai, Yuko Nitahara-Kasahara, Yuko Okamoto, 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.
European Journal of Medical Genetics|September 17, 2016
7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephalyKeiko Shimojima, Satoshi Narai, Masami Togawa, et al.
Brain & Development|April 7, 2015
Mutations in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter diseaseShino Shimada, Keiko Shimojima, Noriko Sangu, et al.
European Journal of Medical Genetics|February 15, 2014
Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORAToshiyuki Yamamoto, Maria Antonietta Mencarelli, Chiara Di Marco, et al.
Plos One|March 21, 2015
Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizuresToshiyuki Yamamoto, Keiko Shimojima, Noriko Sangu, et al.
Pageof 3

Showing results (11-20 of 21) with videos related to

Sort By:
Pageof 3
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.
Congenital Anomalies|July 25, 2015
Use of targeted next-generation sequencing for molecular diagnosis of craniosynostosis: Identification of a novel de novo mutation of EFNB1Toshiyuki Yamamoto, Naru Igarashi, Keiko Shimojima, et al.
Journal of the Neurological Sciences|May 21, 2013
A novel homozygous mutation of GJC2 derived from maternal uniparental disomy in a female patient with Pelizaeus-Merzbacher-like diseaseKeiko Shimojima, Ryuta Tanaka, Shino Shimada, et al.
Regenerative Therapy|March 4, 2026
Genomic analysis of dental pulp mesenchymal stromal cells for therapeutic applicationsKunio Hirai, Yuko Nitahara-Kasahara, Yuko Okamoto, 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.
European Journal of Medical Genetics|September 17, 2016
7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephalyKeiko Shimojima, Satoshi Narai, Masami Togawa, et al.
Brain & Development|April 7, 2015
Mutations in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter diseaseShino Shimada, Keiko Shimojima, Noriko Sangu, et al.
European Journal of Medical Genetics|February 15, 2014
Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORAToshiyuki Yamamoto, Maria Antonietta Mencarelli, Chiara Di Marco, et al.
Plos One|March 21, 2015
Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizuresToshiyuki Yamamoto, Keiko Shimojima, Noriko Sangu, et al.
Pageof 3