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Gen Nishimura

Showing results (101-110 of 335) with videos related to

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Human Genetics|March 31, 2007
A recurrent mutation in type II collagen gene causes Legg-Calvé-Perthes disease in a Japanese familyYoshinari Miyamoto, Tatsuo Matsuda, Hiroshi Kitoh, et al.
American Journal of Medical Genetics. Part A|March 31, 2007
Martsolf syndrome in Japanese siblingsHiroaki Ehara, Yasushi Utsunomiya, Atsushi Ieshima, et al.
Endocrine|July 13, 2021
Mild progressive osseous heteroplasia overlap syndrome with PTH and TSH resistance appearing during adolescence and not early childhoodKayo Ozaki, Akari Mituboshi, Masashi Nagai, et al.
American Journal of Medical Genetics. Part A|September 17, 2013
A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndromeMasaki Matsushita, Hiroshi Kitoh, Hiroshi Kaneko, et al.
American Journal of Medical Genetics. Part A|August 20, 2013
The phenotype range of achondrogenesis 1AGiedre Grigelioniene, Stefan Geiberger, Nikos Papadogiannakis, et al.
American Journal of Medical Genetics. Part A|July 2, 2013
A recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type VMasaki Takagi, Shuhei Sato, Keiichi Hara, et al.
AJR. American Journal of Roentgenology|May 3, 2017
Ultra-Low-Dose Fetal CT With Model-Based Iterative Reconstruction: A Prospective Pilot StudyRumi Imai, Osamu Miyazaki, Tetsuya Horiuchi, et al.
American Journal of Medical Genetics. Part A|April 28, 2006
A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasiaKoichi Maeda, Yoshinari Miyamoto, Hideaki Sawai, et al.
Archives of Gynecology and Obstetrics|May 3, 2011
Antenatal three-dimensional sonographic features of Roberts syndromeDaisy J Dulnuan, Megumi Matsuoka, Emiko Uketa, et al.
American Journal of Medical Genetics. Part A|July 7, 2016
Further evidence of POP1 mutations as the cause of anauxetic dysplasiaSiham Chafai Elalaoui, Fatima Zahra Laarabi, Maria Mansouri, et al.
Pageof 34

Showing results (101-110 of 335) with videos related to

Sort By:
Pageof 34
Human Genetics|March 31, 2007
A recurrent mutation in type II collagen gene causes Legg-Calvé-Perthes disease in a Japanese familyYoshinari Miyamoto, Tatsuo Matsuda, Hiroshi Kitoh, et al.
American Journal of Medical Genetics. Part A|March 31, 2007
Martsolf syndrome in Japanese siblingsHiroaki Ehara, Yasushi Utsunomiya, Atsushi Ieshima, et al.
Endocrine|July 13, 2021
Mild progressive osseous heteroplasia overlap syndrome with PTH and TSH resistance appearing during adolescence and not early childhoodKayo Ozaki, Akari Mituboshi, Masashi Nagai, et al.
American Journal of Medical Genetics. Part A|September 17, 2013
A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndromeMasaki Matsushita, Hiroshi Kitoh, Hiroshi Kaneko, et al.
American Journal of Medical Genetics. Part A|August 20, 2013
The phenotype range of achondrogenesis 1AGiedre Grigelioniene, Stefan Geiberger, Nikos Papadogiannakis, et al.
American Journal of Medical Genetics. Part A|July 2, 2013
A recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type VMasaki Takagi, Shuhei Sato, Keiichi Hara, et al.
AJR. American Journal of Roentgenology|May 3, 2017
Ultra-Low-Dose Fetal CT With Model-Based Iterative Reconstruction: A Prospective Pilot StudyRumi Imai, Osamu Miyazaki, Tetsuya Horiuchi, et al.
American Journal of Medical Genetics. Part A|April 28, 2006
A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasiaKoichi Maeda, Yoshinari Miyamoto, Hideaki Sawai, et al.
Archives of Gynecology and Obstetrics|May 3, 2011
Antenatal three-dimensional sonographic features of Roberts syndromeDaisy J Dulnuan, Megumi Matsuoka, Emiko Uketa, et al.
American Journal of Medical Genetics. Part A|July 7, 2016
Further evidence of POP1 mutations as the cause of anauxetic dysplasiaSiham Chafai Elalaoui, Fatima Zahra Laarabi, Maria Mansouri, et al.
Pageof 34