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Gen Nishimura

Showing results (231-240 of 335) with videos related to

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Plos One|May 23, 2012
A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfectaMasaki Takagi, Tomohiro Ishii, Aileen M Barnes, et al.
Pediatric Radiology|February 13, 2016
Criteria for radiologic diagnosis of hypochondroplasia in neonatesTomoko Saito, Keisuke Nagasaki, Gen Nishimura, et al.
American Journal of Medical Genetics. Part A|August 1, 2018
Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosisPelin O Simsek-Kiper, Ekim Z Taskiran, Can Kosukcu, et al.
American Journal of Medical Genetics. Part A|October 16, 2007
Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changesTomoki Kosho, Jun Takahashi, Takashige Momose, et al.
European Journal of Medical Genetics|January 25, 2019
Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutationZoran Gucev, Velibor Tasic, Ivona Bogevska, et al.
Neuromuscular Disorders : NMD|June 26, 2009
Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossificationAsako Arai, Satomi Mitsuhashi, Yoshiaki Saito, et al.
American Journal of Medical Genetics. Part A|June 28, 2013
Osteogenesis imperfecta type V: clinical and radiographic manifestations in mutation confirmed patientsOk-Hwa Kim, Dong-Kyu Jin, Keisuke Kosaki, et al.
American Journal of Medical Genetics. Part A|December 28, 2019
Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan-specific pathogenic variant in SLC26A2Taisuke Sato, Takashi Kojima, Osamu Samura, et al.
American Journal of Medical Genetics. Part A|April 23, 2004
TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutationsAkira Kinoshita, Yasuyuki Fukumaki, Shuya Shirahama, et al.
Journal of Human Genetics|June 10, 2018
Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcificationGizem Ürel-Demir, Pelin Ozlem Simsek-Kiper, Özlem Akgün-Doğan, et al.
Pageof 34

Showing results (231-240 of 335) with videos related to

Sort By:
Pageof 34
Plos One|May 23, 2012
A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfectaMasaki Takagi, Tomohiro Ishii, Aileen M Barnes, et al.
Pediatric Radiology|February 13, 2016
Criteria for radiologic diagnosis of hypochondroplasia in neonatesTomoko Saito, Keisuke Nagasaki, Gen Nishimura, et al.
American Journal of Medical Genetics. Part A|August 1, 2018
Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosisPelin O Simsek-Kiper, Ekim Z Taskiran, Can Kosukcu, et al.
American Journal of Medical Genetics. Part A|October 16, 2007
Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changesTomoki Kosho, Jun Takahashi, Takashige Momose, et al.
European Journal of Medical Genetics|January 25, 2019
Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutationZoran Gucev, Velibor Tasic, Ivona Bogevska, et al.
Neuromuscular Disorders : NMD|June 26, 2009
Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossificationAsako Arai, Satomi Mitsuhashi, Yoshiaki Saito, et al.
American Journal of Medical Genetics. Part A|June 28, 2013
Osteogenesis imperfecta type V: clinical and radiographic manifestations in mutation confirmed patientsOk-Hwa Kim, Dong-Kyu Jin, Keisuke Kosaki, et al.
American Journal of Medical Genetics. Part A|December 28, 2019
Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan-specific pathogenic variant in SLC26A2Taisuke Sato, Takashi Kojima, Osamu Samura, et al.
American Journal of Medical Genetics. Part A|April 23, 2004
TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutationsAkira Kinoshita, Yasuyuki Fukumaki, Shuya Shirahama, et al.
Journal of Human Genetics|June 10, 2018
Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcificationGizem Ürel-Demir, Pelin Ozlem Simsek-Kiper, Özlem Akgün-Doğan, et al.
Pageof 34