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 (261-270 of 335) with videos related to

Pageof 34
Sort By:
Human Molecular Genetics|July 28, 2007
A novel dominant-negative mutation in Gdf5 generated by ENU mutagenesis impairs joint formation and causes osteoarthritis in miceHiroshi Masuya, Keiichiro Nishida, Tatsuya Furuichi, et al.
Scientific Reports|October 12, 2022
Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG)Yohei Masunaga, Gen Nishimura, Koji Takahashi, et al.
Journal of Medical Genetics|April 3, 2007
The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian typeGen Nishimura, Eiji Nakashima, Yuichiro Hirose, et al.
Journal of Human Genetics|January 6, 2021
Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesisJing-Yi Xue, Pelin O Simsek-Kiper, Gulen Eda Utine, et al.
American Journal of Medical Genetics. Part A|May 15, 2012
Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 geneRoberto Mendoza-Londono, David Chitayat, Walter H A Kahr, et al.
American Journal of Medical Genetics. Part A|December 25, 2009
Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: identification of a 7.2-kb microdeletion using oligonucleotide tiling microarraySatoshi Narumi, Chikahiko Numakura, Takashi Shiihara, et al.
American Journal of Medical Genetics. Part A|April 2, 2010
A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven casesOk-Hwa Kim, Gen Nishimura, Hae-Ryong Song, et al.
Journal of Medical Genetics|July 14, 2012
PAPSS2 mutations cause autosomal recessive brachyolmiaNoriko Miyake, Nursel H Elcioglu, Aritoshi Iida, et al.
American Journal of Medical Genetics. Part A|October 22, 2019
Nosology and classification of genetic skeletal disorders: 2019 revisionGeert R Mortier, Daniel H Cohn, Valerie Cormier-Daire, et al.
Human Genetics|December 17, 2002
Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasiaAkihiko Mabuchi, Noriyo Manabe, Nobuhiko Haga, et al.
Pageof 34

Showing results (261-270 of 335) with videos related to

Sort By:
Pageof 34
Human Molecular Genetics|July 28, 2007
A novel dominant-negative mutation in Gdf5 generated by ENU mutagenesis impairs joint formation and causes osteoarthritis in miceHiroshi Masuya, Keiichiro Nishida, Tatsuya Furuichi, et al.
Scientific Reports|October 12, 2022
Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG)Yohei Masunaga, Gen Nishimura, Koji Takahashi, et al.
Journal of Medical Genetics|April 3, 2007
The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian typeGen Nishimura, Eiji Nakashima, Yuichiro Hirose, et al.
Journal of Human Genetics|January 6, 2021
Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesisJing-Yi Xue, Pelin O Simsek-Kiper, Gulen Eda Utine, et al.
American Journal of Medical Genetics. Part A|May 15, 2012
Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 geneRoberto Mendoza-Londono, David Chitayat, Walter H A Kahr, et al.
American Journal of Medical Genetics. Part A|December 25, 2009
Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: identification of a 7.2-kb microdeletion using oligonucleotide tiling microarraySatoshi Narumi, Chikahiko Numakura, Takashi Shiihara, et al.
American Journal of Medical Genetics. Part A|April 2, 2010
A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven casesOk-Hwa Kim, Gen Nishimura, Hae-Ryong Song, et al.
Journal of Medical Genetics|July 14, 2012
PAPSS2 mutations cause autosomal recessive brachyolmiaNoriko Miyake, Nursel H Elcioglu, Aritoshi Iida, et al.
American Journal of Medical Genetics. Part A|October 22, 2019
Nosology and classification of genetic skeletal disorders: 2019 revisionGeert R Mortier, Daniel H Cohn, Valerie Cormier-Daire, et al.
Human Genetics|December 17, 2002
Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasiaAkihiko Mabuchi, Noriyo Manabe, Nobuhiko Haga, et al.
Pageof 34