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

Satoko Miyatake

Showing results (51-60 of 212) with videos related to

Pageof 22
Sort By:
Human Genome Variation|November 10, 2022
Distal 2q duplication in a patient with intellectual disabilityToshifumi Suzuki, Hitoshi Osaka, Noriko Miyake, et al.
Journal of Human Genetics|February 19, 2016
Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutationsKazuhiro Iwama, Masayuki Sasaki, Shinichi Hirabayashi, et al.
Journal of Human Genetics|December 7, 2017
A novel mutation in SLC1A3 causes episodic ataxiaKazuhiro Iwama, Aya Iwata, Masaaki Shiina, et al.
American Journal of Medical Genetics. Part A|March 13, 2012
Neurodevelopmental features in 2q23.1 microdeletion syndrome: report of a new patient with intractable seizures and review of literatureMitsuo Motobayashi, Akira Nishimura-Tadaki, Yuji Inaba, et al.
Journal of Human Genetics|January 14, 2025
Triple mosaic variants of PURA in a patient with multiple congenital anomaliesAtsushi Fujita, Yuta Suenaga, Eri Takeshita, et al.
Journal of Human Genetics|April 8, 2025
Mosaic deletions detected by genome sequencing in two familiesNaomi Tsuchida, Yuri Uchiyama, Kohei Hamanaka, et al.
Human Genetics|November 14, 2015
Detection of low-prevalence somatic TSC2 mutations in sporadic pulmonary lymphangioleiomyomatosis tissues by deep sequencingAtsushi Fujita, Katsutoshi Ando, Etsuko Kobayashi, et al.
Journal of Human Genetics|February 8, 2018
A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial featuresFutoshi Sekiguchi, Jafar Nasiri, Maryam Sedghi, et al.
Brain & Development|June 14, 2020
Effect of total callosotomy on KCNQ2-related intractable epilepsyAyako Yamamoto, Yoshiaki Saito, Yoshitaka Oyama, et al.
BMC Medical Genomics|December 7, 2021
Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasiaKana Kitayama, Tomoya Ishiguro, Masaki Komiyama, et al.
Pageof 22

Showing results (51-60 of 212) with videos related to

Sort By:
Pageof 22
Human Genome Variation|November 10, 2022
Distal 2q duplication in a patient with intellectual disabilityToshifumi Suzuki, Hitoshi Osaka, Noriko Miyake, et al.
Journal of Human Genetics|February 19, 2016
Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutationsKazuhiro Iwama, Masayuki Sasaki, Shinichi Hirabayashi, et al.
Journal of Human Genetics|December 7, 2017
A novel mutation in SLC1A3 causes episodic ataxiaKazuhiro Iwama, Aya Iwata, Masaaki Shiina, et al.
American Journal of Medical Genetics. Part A|March 13, 2012
Neurodevelopmental features in 2q23.1 microdeletion syndrome: report of a new patient with intractable seizures and review of literatureMitsuo Motobayashi, Akira Nishimura-Tadaki, Yuji Inaba, et al.
Journal of Human Genetics|January 14, 2025
Triple mosaic variants of PURA in a patient with multiple congenital anomaliesAtsushi Fujita, Yuta Suenaga, Eri Takeshita, et al.
Journal of Human Genetics|April 8, 2025
Mosaic deletions detected by genome sequencing in two familiesNaomi Tsuchida, Yuri Uchiyama, Kohei Hamanaka, et al.
Human Genetics|November 14, 2015
Detection of low-prevalence somatic TSC2 mutations in sporadic pulmonary lymphangioleiomyomatosis tissues by deep sequencingAtsushi Fujita, Katsutoshi Ando, Etsuko Kobayashi, et al.
Journal of Human Genetics|February 8, 2018
A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial featuresFutoshi Sekiguchi, Jafar Nasiri, Maryam Sedghi, et al.
Brain & Development|June 14, 2020
Effect of total callosotomy on KCNQ2-related intractable epilepsyAyako Yamamoto, Yoshiaki Saito, Yoshitaka Oyama, et al.
BMC Medical Genomics|December 7, 2021
Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasiaKana Kitayama, Tomoya Ishiguro, Masaki Komiyama, et al.
Pageof 22