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

Yasuhiro Utsuno

Showing results (1-10 of 5) with videos related to

Pageof 1
Sort By:
NAR Genomics and Bioinformatics|December 22, 2025
A practical framework for predicting splicing single nucleotide variants in exome sequencingYasuhiro Utsuno, Kohei Hamanaka, Masamune Sakamoto, et al.
Journal of Human Genetics|November 27, 2023
Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disordersYasuhiro Utsuno, Keisuke Hamada, Kohei Hamanaka, et al.
Scientific Reports|January 18, 2023
A novel NONO variant that causes developmental delay and cardiac phenotypesToshiyuki Itai, Atsushi Sugie, Yohei Nitta, et al.
Journal of Human Genetics|December 17, 2025
Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disordersYukina Hayashi, Kenta Kajiwara, Seiji Mizuno, et al.
NPJ Genomic Medicine|August 26, 2025
Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delayKohei Hamanaka, Atsushi Fujita, Satoko Miyatake, et al.
Pageof 1

Showing results (1-10 of 5) with videos related to

Sort By:
Pageof 1
NAR Genomics and Bioinformatics|December 22, 2025
A practical framework for predicting splicing single nucleotide variants in exome sequencingYasuhiro Utsuno, Kohei Hamanaka, Masamune Sakamoto, et al.
Journal of Human Genetics|November 27, 2023
Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disordersYasuhiro Utsuno, Keisuke Hamada, Kohei Hamanaka, et al.
Scientific Reports|January 18, 2023
A novel NONO variant that causes developmental delay and cardiac phenotypesToshiyuki Itai, Atsushi Sugie, Yohei Nitta, et al.
Journal of Human Genetics|December 17, 2025
Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disordersYukina Hayashi, Kenta Kajiwara, Seiji Mizuno, et al.
NPJ Genomic Medicine|August 26, 2025
Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delayKohei Hamanaka, Atsushi Fujita, Satoko Miyatake, et al.
Pageof 1