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

Gen Nishimura

Showing results (161-170 of 335) with videos related to

Pageof 34
Sort By:
Journal of Human Genetics|May 28, 2010
TRPV4-pathy, a novel channelopathy affecting diverse systemsJin Dai, Tae-Joon Cho, Sheila Unger, et al.
Journal of Human Genetics|October 10, 2020
The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteinsJing-Yi Xue, Zheng Wang, Sarah F Smithson, et al.
European Journal of Medical Genetics|January 29, 2024
Pachydysostosis of the fibula in a case of familial adenomatous polyposisDaniela Oliveira, Sofia Maia, Inês Balacó, et al.
American Journal of Medical Genetics. Part A|October 1, 2015
Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type StanescuAnna Hammarsjö, Ann Nordgren, Kristina Lagerstedt-Robinson, et al.
American Journal of Medical Genetics. Part A|November 23, 2019
Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathiesKatta M Girisha, Gandham S Bhavani, Hitesh Shah, et al.
Pediatric Rheumatology Online Journal|March 17, 2010
Effect of anakinra on arthropathy in CINCA/NOMID syndromeTakako Miyamae, Yutaka Inaba, Gen Nishimura, et al.
The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians|January 22, 2011
Prenatal diagnosis of Kniest dysplasia with three-dimensional helical computed tomographyRyu Wada, Hideaki Sawai, Gen Nishimura, et al.
Journal of Human Genetics|November 25, 2016
Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2Long Guo, Nursel H Elcioglu, Aritoshi Iida, et al.
Journal of Human Genetics|July 13, 2006
Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasiaYuichiro Hirose, Eiji Nakashima, Hirofumi Ohashi, et al.
Journal of Human Genetics|January 13, 2026
De novo GNAS-Gsα variant (p.Thr55Ala) with constitutive gain-of-function effects on AVPR2 and PTH1R signalingsMaiko Ikeda, Chikahiko Numakura, Gen Nishimura, et al.
Pageof 34

Showing results (161-170 of 335) with videos related to

Sort By:
Pageof 34
Journal of Human Genetics|May 28, 2010
TRPV4-pathy, a novel channelopathy affecting diverse systemsJin Dai, Tae-Joon Cho, Sheila Unger, et al.
Journal of Human Genetics|October 10, 2020
The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteinsJing-Yi Xue, Zheng Wang, Sarah F Smithson, et al.
European Journal of Medical Genetics|January 29, 2024
Pachydysostosis of the fibula in a case of familial adenomatous polyposisDaniela Oliveira, Sofia Maia, Inês Balacó, et al.
American Journal of Medical Genetics. Part A|October 1, 2015
Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type StanescuAnna Hammarsjö, Ann Nordgren, Kristina Lagerstedt-Robinson, et al.
American Journal of Medical Genetics. Part A|November 23, 2019
Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathiesKatta M Girisha, Gandham S Bhavani, Hitesh Shah, et al.
Pediatric Rheumatology Online Journal|March 17, 2010
Effect of anakinra on arthropathy in CINCA/NOMID syndromeTakako Miyamae, Yutaka Inaba, Gen Nishimura, et al.
The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians|January 22, 2011
Prenatal diagnosis of Kniest dysplasia with three-dimensional helical computed tomographyRyu Wada, Hideaki Sawai, Gen Nishimura, et al.
Journal of Human Genetics|November 25, 2016
Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2Long Guo, Nursel H Elcioglu, Aritoshi Iida, et al.
Journal of Human Genetics|July 13, 2006
Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasiaYuichiro Hirose, Eiji Nakashima, Hirofumi Ohashi, et al.
Journal of Human Genetics|January 13, 2026
De novo GNAS-Gsα variant (p.Thr55Ala) with constitutive gain-of-function effects on AVPR2 and PTH1R signalingsMaiko Ikeda, Chikahiko Numakura, Gen Nishimura, et al.
Pageof 34