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Gen Nishimura

Showing results (51-60 of 334) with videos related to

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American Journal of Medical Genetics. Part A|April 11, 2015
Severe osteogenesis imperfecta caused by double glycine substitutions near the amino-terminal triple helical region in COL1A2Masaki Takagi, Hiroyuki Shinohara, Satoshi Narumi, et al.
American Journal of Medical Genetics. Part A|June 20, 2012
First case of a Japanese girl with Myhre syndrome due to a heterozygous SMAD4 mutationYumi Asakura, Koji Muroya, Takeshi Sato, et al.
European Journal of Human Genetics : EJHG|February 23, 2012
Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotypeMasayo Kagami, Fumiko Kato, Keiko Matsubara, et al.
Human Genome Variation|March 8, 2017
A novel mutation in the C-propeptide of <i>COL2A1</i> causes atypical spondyloepiphyseal dysplasia congenitaChieko Kusano, Masaki Takagi, Naoaki Hori, et al.
American Journal of Medical Genetics. Part A|February 25, 2003
Generalized skeletal dysplasia in mother and daughter with 22q11 deletion syndromeMasanori Adachi, Katsuhiko Tachibana, Yumi Asakura, et al.
Human Genome Variation|June 15, 2018
Two novel mutations of <i>COMP</i> in Japanese boys with pseudoachondroplasiaYosuke Ichihashi, Masaki Takagi, Tomohiro Ishii, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|August 11, 2016
A Japanese familial case of hypochondroplasia with a novel mutation in FGFR3Keiko Nagahara, Yuki Harada, Tohru Futami, et al.
American Journal of Medical Genetics. Part A|June 8, 2020
Maternal SLE and brachytelephalangic chondrodysplasia punctata in a patient with unrelated de novo RAF1 and SIX2 variantsEbba Alkhunaizi, Sharon Unger, Patrick Shannon, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society|October 20, 2004
Postnatal remission of ocular, auditory, and somatic findings in Stickler syndromeTakehisa Fujiwaki, Gen Nishimura, Hirofumi Ohashi, et al.
American Journal of Medical Genetics. Part A|January 21, 2016
Stippled calcification in an infant with a recurrent SRCAP gene mutationHiroko Yagi, Masaki Takagi, Satoshi Narumi, et al.
Pageof 34

Showing results (51-60 of 334) with videos related to

Sort By:
Pageof 34
American Journal of Medical Genetics. Part A|April 11, 2015
Severe osteogenesis imperfecta caused by double glycine substitutions near the amino-terminal triple helical region in COL1A2Masaki Takagi, Hiroyuki Shinohara, Satoshi Narumi, et al.
American Journal of Medical Genetics. Part A|June 20, 2012
First case of a Japanese girl with Myhre syndrome due to a heterozygous SMAD4 mutationYumi Asakura, Koji Muroya, Takeshi Sato, et al.
European Journal of Human Genetics : EJHG|February 23, 2012
Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotypeMasayo Kagami, Fumiko Kato, Keiko Matsubara, et al.
Human Genome Variation|March 8, 2017
A novel mutation in the C-propeptide of <i>COL2A1</i> causes atypical spondyloepiphyseal dysplasia congenitaChieko Kusano, Masaki Takagi, Naoaki Hori, et al.
American Journal of Medical Genetics. Part A|February 25, 2003
Generalized skeletal dysplasia in mother and daughter with 22q11 deletion syndromeMasanori Adachi, Katsuhiko Tachibana, Yumi Asakura, et al.
Human Genome Variation|June 15, 2018
Two novel mutations of <i>COMP</i> in Japanese boys with pseudoachondroplasiaYosuke Ichihashi, Masaki Takagi, Tomohiro Ishii, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|August 11, 2016
A Japanese familial case of hypochondroplasia with a novel mutation in FGFR3Keiko Nagahara, Yuki Harada, Tohru Futami, et al.
American Journal of Medical Genetics. Part A|June 8, 2020
Maternal SLE and brachytelephalangic chondrodysplasia punctata in a patient with unrelated de novo RAF1 and SIX2 variantsEbba Alkhunaizi, Sharon Unger, Patrick Shannon, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society|October 20, 2004
Postnatal remission of ocular, auditory, and somatic findings in Stickler syndromeTakehisa Fujiwaki, Gen Nishimura, Hirofumi Ohashi, et al.
American Journal of Medical Genetics. Part A|January 21, 2016
Stippled calcification in an infant with a recurrent SRCAP gene mutationHiroko Yagi, Masaki Takagi, Satoshi Narumi, et al.
Pageof 34