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Hiroshi Kitoh

Showing results (121-130 of 133) with videos related to

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Frontiers in Cell and Developmental Biology|February 4, 2022
Meclozine Attenuates the MARK Pathway in Mammalian Chondrocytes and Ameliorates FGF2-Induced Bone Hyperossification in Larval ZebrafishGenta Takemoto, Masaki Matsushita, Takaaki Okamoto, et al.
American Journal of Medical Genetics. Part A|March 9, 2007
FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactylyAkira Nishimura, Haruya Sakai, Shiro Ikegawa, et al.
Journal of Orthopaedic Science : Official Journal of the Japanese Orthopaedic Association|September 16, 2016
Is the timing of surgery associated with avascular necrosis after unstable slipped capital femoral epiphysis? A multicenter studyYusuke Kohno, Yasuharu Nakashima, Toshio Kitano, et al.
Human Genetics|December 17, 2002
Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctataShuya Shirahama, Akira Miyahara, Hiroshi Kitoh, et al.
The Journal of Clinical Endocrinology and Metabolism|November 12, 2014
C-type natriuretic peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasiaRobert C Olney, Timothy C R Prickett, Eric A Espiner, et al.
Human Genetics|December 17, 2002
Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasiaAkihiko Mabuchi, Noriyo Manabe, Nobuhiko Haga, et al.
American Journal of Medical Genetics. Part A|May 27, 2010
Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutationsGen Nishimura, Jin Dai, Ekkehart Lausch, et al.
Orphanet Journal of Rare Diseases|September 17, 2024
International expert opinion on the considerations for combining vosoritide and limb surgery: a modified delphi studySilvio Boero, Julia Vodopiutz, Mohamad Maghnie, et al.
American Journal of Human Genetics|January 7, 2014
Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophyJulie Hoover-Fong, Nara Sobreira, Julie Jurgens, et al.
Biochemical and Biophysical Research Communications|March 8, 2011
A novel mutation of ALK2, L196P, found in the most benign case of fibrodysplasia ossificans progressiva activates BMP-specific intracellular signaling equivalent to a typical mutation, R206HSatoshi Ohte, Masashi Shin, Hiroki Sasanuma, et al.
Pageof 14

Showing results (121-130 of 133) with videos related to

Sort By:
Pageof 14
Frontiers in Cell and Developmental Biology|February 4, 2022
Meclozine Attenuates the MARK Pathway in Mammalian Chondrocytes and Ameliorates FGF2-Induced Bone Hyperossification in Larval ZebrafishGenta Takemoto, Masaki Matsushita, Takaaki Okamoto, et al.
American Journal of Medical Genetics. Part A|March 9, 2007
FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactylyAkira Nishimura, Haruya Sakai, Shiro Ikegawa, et al.
Journal of Orthopaedic Science : Official Journal of the Japanese Orthopaedic Association|September 16, 2016
Is the timing of surgery associated with avascular necrosis after unstable slipped capital femoral epiphysis? A multicenter studyYusuke Kohno, Yasuharu Nakashima, Toshio Kitano, et al.
Human Genetics|December 17, 2002
Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctataShuya Shirahama, Akira Miyahara, Hiroshi Kitoh, et al.
The Journal of Clinical Endocrinology and Metabolism|November 12, 2014
C-type natriuretic peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasiaRobert C Olney, Timothy C R Prickett, Eric A Espiner, et al.
Human Genetics|December 17, 2002
Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasiaAkihiko Mabuchi, Noriyo Manabe, Nobuhiko Haga, et al.
American Journal of Medical Genetics. Part A|May 27, 2010
Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutationsGen Nishimura, Jin Dai, Ekkehart Lausch, et al.
Orphanet Journal of Rare Diseases|September 17, 2024
International expert opinion on the considerations for combining vosoritide and limb surgery: a modified delphi studySilvio Boero, Julia Vodopiutz, Mohamad Maghnie, et al.
American Journal of Human Genetics|January 7, 2014
Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophyJulie Hoover-Fong, Nara Sobreira, Julie Jurgens, et al.
Biochemical and Biophysical Research Communications|March 8, 2011
A novel mutation of ALK2, L196P, found in the most benign case of fibrodysplasia ossificans progressiva activates BMP-specific intracellular signaling equivalent to a typical mutation, R206HSatoshi Ohte, Masashi Shin, Hiroki Sasanuma, et al.
Pageof 14