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

Mitsuko Nakashima

Showing results (61-70 of 208) with videos related to

Pageof 21
Sort By:
Epilepsia Open|March 8, 2021
Preliminary report for Epilepsia Open A case of West syndrome with severe global developmental delay and confirmed KIF5A gene variantMasataka Fukuoka, Shin Okazaki, Kiyohiro Kim, et al.
American Journal of Medical Genetics. Part A|June 18, 2014
Severe manifestations of hand-foot-genital syndrome associated with a novel HOXA13 mutationEri Imagawa, Hülya Kayserili, Gen Nishimura, et al.
Journal of Human Genetics|February 20, 2015
A case of autism spectrum disorder arising from a de novo missense mutation in POGZRyoko Fukai, Yoko Hiraki, Hiroko Yofune, et al.
Journal of Human Genetics|October 5, 2012
The diagnostic utility of exome sequencing in Joubert syndrome and related disordersYoshinori Tsurusaki, Yasuko Kobayashi, Masataka Hisano, et al.
Brain & Development|October 26, 2017
A de novo p.Arg756Cys mutation in ATP1A3 causes a distinct phenotype with prolonged weakness and encephalopathy triggered by feverYuji Nakamura, Ayako Hattori, Mitsuko Nakashima, et al.
Virchows Archiv : an International Journal of Pathology|February 9, 2023
Multiple hemangiomas (hepatic small vessel neoplasia) in the liver with Budd-Chiari syndromeHiroshi Kobayashi, Kenji Notohara, Mitsuko Nakashima, et al.
Journal of Human Genetics|January 17, 2014
A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2Junya Nakajima, Tuba F Eminoglu, Goksel Vatansever, et al.
Journal of Human Genetics|November 7, 2014
The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndromeMitsuko Nakashima, Masakazu Miyajima, Hidenori Sugano, et al.
Journal of Human Genetics|October 4, 2013
Novel FIG4 mutations in Yunis-Varon syndromeJunya Nakajima, Nobuhiko Okamoto, Jun Shiraishi, et al.
Journal of Human Genetics|December 5, 2014
Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathyHirofumi Kodera, Hitoshi Osaka, Mizue Iai, et al.
Pageof 21

Showing results (61-70 of 208) with videos related to

Sort By:
Pageof 21
Epilepsia Open|March 8, 2021
Preliminary report for Epilepsia Open A case of West syndrome with severe global developmental delay and confirmed KIF5A gene variantMasataka Fukuoka, Shin Okazaki, Kiyohiro Kim, et al.
American Journal of Medical Genetics. Part A|June 18, 2014
Severe manifestations of hand-foot-genital syndrome associated with a novel HOXA13 mutationEri Imagawa, Hülya Kayserili, Gen Nishimura, et al.
Journal of Human Genetics|February 20, 2015
A case of autism spectrum disorder arising from a de novo missense mutation in POGZRyoko Fukai, Yoko Hiraki, Hiroko Yofune, et al.
Journal of Human Genetics|October 5, 2012
The diagnostic utility of exome sequencing in Joubert syndrome and related disordersYoshinori Tsurusaki, Yasuko Kobayashi, Masataka Hisano, et al.
Brain & Development|October 26, 2017
A de novo p.Arg756Cys mutation in ATP1A3 causes a distinct phenotype with prolonged weakness and encephalopathy triggered by feverYuji Nakamura, Ayako Hattori, Mitsuko Nakashima, et al.
Virchows Archiv : an International Journal of Pathology|February 9, 2023
Multiple hemangiomas (hepatic small vessel neoplasia) in the liver with Budd-Chiari syndromeHiroshi Kobayashi, Kenji Notohara, Mitsuko Nakashima, et al.
Journal of Human Genetics|January 17, 2014
A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2Junya Nakajima, Tuba F Eminoglu, Goksel Vatansever, et al.
Journal of Human Genetics|November 7, 2014
The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndromeMitsuko Nakashima, Masakazu Miyajima, Hidenori Sugano, et al.
Journal of Human Genetics|October 4, 2013
Novel FIG4 mutations in Yunis-Varon syndromeJunya Nakajima, Nobuhiko Okamoto, Jun Shiraishi, et al.
Journal of Human Genetics|December 5, 2014
Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathyHirofumi Kodera, Hitoshi Osaka, Mizue Iai, et al.
Pageof 21