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Gen Nishimura

Showing results (191-200 of 335) with videos related to

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Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|June 5, 2019
TNFRSF11A-Associated Dysosteosclerosis: A Report of the Second Case and Characterization of the Phenotypic SpectrumJing-Yi Xue, Zheng Wang, Satoshi Shinagawa, et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society|May 4, 2011
ENU-induced missense mutation in the C-propeptide coding region of Col2a1 creates a mouse model of platyspondylic lethal skeletal dysplasia, Torrance typeTatsuya Furuichi, Hiroshi Masuya, Tomohiko Murakami, et al.
American Journal of Human Genetics|July 21, 2009
Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasiaEkkehart Lausch, Romy Keppler, Katja Hilbert, et al.
Skeletal Radiology|March 12, 2009
A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patientsOk-Hwa Kim, Tae-Joon Cho, Hae-Ryong Song, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society|September 25, 2014
Case of Desbuquois dysplasia type 1: potentially lethal skeletal dysplasiaShinkai Inoue, Atsushi Ishii, Goro Shirotani, et al.
American Journal of Medical Genetics. Part A|September 30, 2016
Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostosesAkira Ohishi, Gen Nishimura, Fumiko Kato, et al.
American Journal of Medical Genetics|July 13, 2002
Paternal UPD14 is responsible for a distinctive malformation complexKenji Kurosawa, Hiroyuki Sasaki, Yoshiaki Sato, et al.
Clinical Endocrinology|December 10, 2013
IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patientsFumiko Kato, Takashi Hamajima, Tomonobu Hasegawa, et al.
Prenatal Diagnosis|March 23, 2017
Parental serum alkaline phosphatase activity as an auxiliary tool for prenatal diagnosis of hypophosphatasiaYuichiro Takahashi, Hideaki Sawai, Jun Murotsuki, et al.
American Journal of Medical Genetics. Part A|August 12, 2011
Heterozygous C-propeptide mutations in COL1A1: osteogenesis imperfecta type IIC and dense bone variantMasaki Takagi, Naoaki Hori, Yasutsugu Chinen, et al.
Pageof 34

Showing results (191-200 of 335) with videos related to

Sort By:
Pageof 34
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|June 5, 2019
TNFRSF11A-Associated Dysosteosclerosis: A Report of the Second Case and Characterization of the Phenotypic SpectrumJing-Yi Xue, Zheng Wang, Satoshi Shinagawa, et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society|May 4, 2011
ENU-induced missense mutation in the C-propeptide coding region of Col2a1 creates a mouse model of platyspondylic lethal skeletal dysplasia, Torrance typeTatsuya Furuichi, Hiroshi Masuya, Tomohiko Murakami, et al.
American Journal of Human Genetics|July 21, 2009
Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasiaEkkehart Lausch, Romy Keppler, Katja Hilbert, et al.
Skeletal Radiology|March 12, 2009
A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patientsOk-Hwa Kim, Tae-Joon Cho, Hae-Ryong Song, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society|September 25, 2014
Case of Desbuquois dysplasia type 1: potentially lethal skeletal dysplasiaShinkai Inoue, Atsushi Ishii, Goro Shirotani, et al.
American Journal of Medical Genetics. Part A|September 30, 2016
Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostosesAkira Ohishi, Gen Nishimura, Fumiko Kato, et al.
American Journal of Medical Genetics|July 13, 2002
Paternal UPD14 is responsible for a distinctive malformation complexKenji Kurosawa, Hiroyuki Sasaki, Yoshiaki Sato, et al.
Clinical Endocrinology|December 10, 2013
IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patientsFumiko Kato, Takashi Hamajima, Tomonobu Hasegawa, et al.
Prenatal Diagnosis|March 23, 2017
Parental serum alkaline phosphatase activity as an auxiliary tool for prenatal diagnosis of hypophosphatasiaYuichiro Takahashi, Hideaki Sawai, Jun Murotsuki, et al.
American Journal of Medical Genetics. Part A|August 12, 2011
Heterozygous C-propeptide mutations in COL1A1: osteogenesis imperfecta type IIC and dense bone variantMasaki Takagi, Naoaki Hori, Yasutsugu Chinen, et al.
Pageof 34