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Gen Nishimura

Showing results (171-180 of 335) with videos related to

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American Journal of Medical Genetics. Part A|January 19, 2006
Cleidocranial dysplasia plus vascular anomalies with 6p21.2 microdeletion spanning RUNX2 and VEGFKosuke Izumi, Naohisa Yahagi, Yasushi Fujii, et al.
Human Genome Variation|October 7, 2017
Novel and recurrent <i>COL11A1</i> and <i>COL2A1</i> mutations in the Marshall-Stickler syndrome spectrumLong Guo, Nursel H Elcioglu, Zheng Wang, et al.
American Journal of Medical Genetics. Part A|June 11, 2015
Polyostotic osteolysis and hypophosphatemic rickets with elevated serum fibroblast growth factor 23: A case reportTakeshi Sato, Koji Muroya, Yumi Asakura, et al.
American Journal of Medical Genetics. Part A|May 13, 2006
Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese populationTaichi Itoh, Shuya Shirahama, Eiji Nakashima, et al.
Human Genome Variation|February 13, 2020
Novel <i>CUL7</i> biallelic mutations alter the skeletal phenotype of 3M syndromeNao Takizaki, Yoshinori Tsurusaki, Kaoru Katsumata, et al.
Radiographics : a Review Publication of the Radiological Society of North America, Inc|November 26, 2021
Multisystem Imaging Manifestations of Kawasaki DiseaseYuko Tsujioka, Atsuhiko Handa, Gen Nishimura, et al.
Human Genome Variation|October 25, 2019
A severe form of Ellis-van Creveld syndrome caused by novel mutations in <i>EVC2</i>Ikuko Ohashi, Yumi Enomoto, Takuya Naruto, et al.
Human Genome Variation|December 2, 2024
Unclassifiable short-rib thoracic dysplasia diagnosed using targeted gene panel sequencingErika Nakajima, Yuko Yokohama, Saori Sugiyama, et al.
Journal of Human Genetics|October 4, 2013
Novel FIG4 mutations in Yunis-Varon syndromeJunya Nakajima, Nobuhiko Okamoto, Jun Shiraishi, et al.
BMC Research Notes|February 9, 2018
Double non-contiguous fractures in a patient with spondylo-epiphyseal dysplasia with spinal ankylosis treated with open and percutaneous spinal fixation technique: a case reportTakahiro Ushijima, Kenichi Kawaguchi, Tadashi Matsumoto, et al.
Pageof 34

Showing results (171-180 of 335) with videos related to

Sort By:
Pageof 34
American Journal of Medical Genetics. Part A|January 19, 2006
Cleidocranial dysplasia plus vascular anomalies with 6p21.2 microdeletion spanning RUNX2 and VEGFKosuke Izumi, Naohisa Yahagi, Yasushi Fujii, et al.
Human Genome Variation|October 7, 2017
Novel and recurrent <i>COL11A1</i> and <i>COL2A1</i> mutations in the Marshall-Stickler syndrome spectrumLong Guo, Nursel H Elcioglu, Zheng Wang, et al.
American Journal of Medical Genetics. Part A|June 11, 2015
Polyostotic osteolysis and hypophosphatemic rickets with elevated serum fibroblast growth factor 23: A case reportTakeshi Sato, Koji Muroya, Yumi Asakura, et al.
American Journal of Medical Genetics. Part A|May 13, 2006
Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese populationTaichi Itoh, Shuya Shirahama, Eiji Nakashima, et al.
Human Genome Variation|February 13, 2020
Novel <i>CUL7</i> biallelic mutations alter the skeletal phenotype of 3M syndromeNao Takizaki, Yoshinori Tsurusaki, Kaoru Katsumata, et al.
Radiographics : a Review Publication of the Radiological Society of North America, Inc|November 26, 2021
Multisystem Imaging Manifestations of Kawasaki DiseaseYuko Tsujioka, Atsuhiko Handa, Gen Nishimura, et al.
Human Genome Variation|October 25, 2019
A severe form of Ellis-van Creveld syndrome caused by novel mutations in <i>EVC2</i>Ikuko Ohashi, Yumi Enomoto, Takuya Naruto, et al.
Human Genome Variation|December 2, 2024
Unclassifiable short-rib thoracic dysplasia diagnosed using targeted gene panel sequencingErika Nakajima, Yuko Yokohama, Saori Sugiyama, et al.
Journal of Human Genetics|October 4, 2013
Novel FIG4 mutations in Yunis-Varon syndromeJunya Nakajima, Nobuhiko Okamoto, Jun Shiraishi, et al.
BMC Research Notes|February 9, 2018
Double non-contiguous fractures in a patient with spondylo-epiphyseal dysplasia with spinal ankylosis treated with open and percutaneous spinal fixation technique: a case reportTakahiro Ushijima, Kenichi Kawaguchi, Tadashi Matsumoto, et al.
Pageof 34