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Gen Nishimura

Showing results (121-130 of 335) with videos related to

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European Journal of Medical Genetics|June 10, 2024
Biallelic loss-of-function variants in the centriolar protein CCP110 leads to a ciliopathy-like phenotypeHisato Suzuki, Yukako Muramatsu, Fuyuki Miya, et al.
Pediatric Radiology|October 28, 2008
Induction of systemic bone changes by preconditioning total body irradiation for bone marrow transplantationOsamu Miyazaki, Gen Nishimura, Reiko Okamoto, et al.
American Journal of Medical Genetics. Part A|November 21, 2015
Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmiaMasaki Takagi, Mika Shimizu, Eri Suzuki, et al.
Molecular Genetics and Metabolism Reports|February 25, 2025
A girl with intragenic variants in <i>MARS2</i> and a chondrodysplasia phenotypeHiroyuki Iijima, Yuko Tsujioka, Yoshiyuki Tsutsumi, et al.
American Journal of Medical Genetics. Part A|November 11, 2003
RMRP mutations in Japanese patients with cartilage-hair hypoplasiaEiji Nakashima, Akihiko Mabuchi, Kenichi Kashimada, et al.
American Journal of Medical Genetics. Part A|February 27, 2010
Prenatal findings of paternal uniparental disomy 14: report of four patientsMichiko Yamanaka, Hiroshi Ishikawa, Keisuke Saito, et al.
Journal of Human Genetics|June 17, 2008
A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasiaAtsushi Miyake, Gen Nishimura, Toru Futami, et al.
Japanese Journal of Radiology|July 16, 2024
Childhood interstitial lung diseases: current understanding of the classification and imaging findingsYuko Tsujioka, Gen Nishimura, Eugene Nishi, et al.
Frontiers in Endocrinology|July 26, 2017
A Case with Spondyloenchondrodysplasia Treated with Growth HormoneTakanori Utsumi, Satoshi Okada, Kazushi Izawa, et al.
European Journal of Medical Genetics|August 16, 2017
Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplasticaRyojun Takeda, Masaki Takagi, Hiroyuki Shinohara, et al.
Pageof 34

Showing results (121-130 of 335) with videos related to

Sort By:
Pageof 34
European Journal of Medical Genetics|June 10, 2024
Biallelic loss-of-function variants in the centriolar protein CCP110 leads to a ciliopathy-like phenotypeHisato Suzuki, Yukako Muramatsu, Fuyuki Miya, et al.
Pediatric Radiology|October 28, 2008
Induction of systemic bone changes by preconditioning total body irradiation for bone marrow transplantationOsamu Miyazaki, Gen Nishimura, Reiko Okamoto, et al.
American Journal of Medical Genetics. Part A|November 21, 2015
Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmiaMasaki Takagi, Mika Shimizu, Eri Suzuki, et al.
Molecular Genetics and Metabolism Reports|February 25, 2025
A girl with intragenic variants in <i>MARS2</i> and a chondrodysplasia phenotypeHiroyuki Iijima, Yuko Tsujioka, Yoshiyuki Tsutsumi, et al.
American Journal of Medical Genetics. Part A|November 11, 2003
RMRP mutations in Japanese patients with cartilage-hair hypoplasiaEiji Nakashima, Akihiko Mabuchi, Kenichi Kashimada, et al.
American Journal of Medical Genetics. Part A|February 27, 2010
Prenatal findings of paternal uniparental disomy 14: report of four patientsMichiko Yamanaka, Hiroshi Ishikawa, Keisuke Saito, et al.
Journal of Human Genetics|June 17, 2008
A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasiaAtsushi Miyake, Gen Nishimura, Toru Futami, et al.
Japanese Journal of Radiology|July 16, 2024
Childhood interstitial lung diseases: current understanding of the classification and imaging findingsYuko Tsujioka, Gen Nishimura, Eugene Nishi, et al.
Frontiers in Endocrinology|July 26, 2017
A Case with Spondyloenchondrodysplasia Treated with Growth HormoneTakanori Utsumi, Satoshi Okada, Kazushi Izawa, et al.
European Journal of Medical Genetics|August 16, 2017
Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplasticaRyojun Takeda, Masaki Takagi, Hiroyuki Shinohara, et al.
Pageof 34