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Gen Nishimura

Showing results (301-310 of 335) with videos related to

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NPJ Genomic Medicine|November 22, 2023
Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13Prince Jacob, Hillevi Lindelöf, Cecilie F Rustad, et al.
Nature Medicine|February 27, 2019
Gain-of-function mutation of microRNA-140 in human skeletal dysplasiaGiedre Grigelioniene, Hiroshi I Suzuki, Fulya Taylan, et al.
Journal of Human Genetics|July 16, 2024
Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati-Engelmann disease type IIZheng Wang, Mitsuhiro Kometani, Leonid Zeitlin, et al.
American Journal of Medical Genetics. Part A|October 26, 2011
Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA)Lisenka E L M Vissers, Virginia Fano, Diego Martinelli, et al.
Nature Genetics|January 11, 2011
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunityEkkehart Lausch, Andreas Janecke, Matthias Bros, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|September 11, 2020
Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal DysplasiaAlice Costantini, Jessica J Alm, Francesca Tonelli, et al.
Nature Genetics|January 8, 2008
Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypesMasayo Kagami, Yoichi Sekita, Gen Nishimura, et al.
Human Mutation|September 17, 2011
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contributionGail C Jackson, Laureane Mittaz-Crettol, Jacqueline A Taylor, et al.
Human Mutation|June 10, 2010
Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndromeNoriko Miyake, Tomoki Kosho, Shuji Mizumoto, et al.
American Journal of Human Genetics|May 31, 2016
BGN Mutations in X-Linked Spondyloepimetaphyseal DysplasiaSung Yoon Cho, Jun-Seok Bae, Nayoung K D Kim, et al.
Pageof 34

Showing results (301-310 of 335) with videos related to

Sort By:
Pageof 34
NPJ Genomic Medicine|November 22, 2023
Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13Prince Jacob, Hillevi Lindelöf, Cecilie F Rustad, et al.
Nature Medicine|February 27, 2019
Gain-of-function mutation of microRNA-140 in human skeletal dysplasiaGiedre Grigelioniene, Hiroshi I Suzuki, Fulya Taylan, et al.
Journal of Human Genetics|July 16, 2024
Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati-Engelmann disease type IIZheng Wang, Mitsuhiro Kometani, Leonid Zeitlin, et al.
American Journal of Medical Genetics. Part A|October 26, 2011
Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA)Lisenka E L M Vissers, Virginia Fano, Diego Martinelli, et al.
Nature Genetics|January 11, 2011
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunityEkkehart Lausch, Andreas Janecke, Matthias Bros, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|September 11, 2020
Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal DysplasiaAlice Costantini, Jessica J Alm, Francesca Tonelli, et al.
Nature Genetics|January 8, 2008
Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypesMasayo Kagami, Yoichi Sekita, Gen Nishimura, et al.
Human Mutation|September 17, 2011
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contributionGail C Jackson, Laureane Mittaz-Crettol, Jacqueline A Taylor, et al.
Human Mutation|June 10, 2010
Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndromeNoriko Miyake, Tomoki Kosho, Shuji Mizumoto, et al.
American Journal of Human Genetics|May 31, 2016
BGN Mutations in X-Linked Spondyloepimetaphyseal DysplasiaSung Yoon Cho, Jun-Seok Bae, Nayoung K D Kim, et al.
Pageof 34