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Gen Nishimura

Showing results (141-150 of 335) with videos related to

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Congenital Anomalies|November 30, 2004
Large fontanelles are a shared feature of haploinsufficiency of RUNX2 and its co-activator CBFBTomohide Goto, Michihiko Aramaki, Hiroshi Yoshihashi, et al.
Prenatal Diagnosis|February 3, 2004
Radiographic and genetic diagnosis of sporadic hypochondroplasia early in the neonatal periodSoromon Kataoka, Hideaki Sawai, Hideto Yamada, et al.
American Journal of Medical Genetics. Part A|April 29, 2010
De novo deletion of 1q24.3-q31.2 in a patient with severe growth retardationAkira Nishimura, Yoko Hiraki, Hiroko Shimoda, et al.
American Journal of Medical Genetics. Part A|June 18, 2014
Severe manifestations of hand-foot-genital syndrome associated with a novel HOXA13 mutationEri Imagawa, Hülya Kayserili, Gen Nishimura, et al.
Pediatric Radiology|August 6, 2016
Characteristic calcaneal ossification: an additional early radiographic finding in infants with fibrodysplasia ossificans progressivaSachi Hasegawa, Teresa Victoria, Hülya Kayserili, et al.
American Journal of Medical Genetics. Part A|April 16, 2005
Congenital anomaly of cervical vertebrae is a major complication of Rubinstein-Taybi syndromeToshiyuki Yamamoto, Kenji Kurosawa, Mitsuo Masuno, et al.
Skeletal Radiology|December 17, 2002
Autosomal dominant precocious osteoarthropathy due to a mutation of the cartilage oligomeric matrix protein (COMP) gene: further expansion of the phenotypic variations of COMP defectsHiroyuki Kawaji, Gen Nishimura, Sobei Watanabe, et al.
American Journal of Medical Genetics. Part A|December 7, 2013
Compound heterozygous deletions in pseudoautosomal region 1 in an infant with mild manifestations of langer mesomelic dysplasiaTakayoshi Tsuchiya, Minoru Shibata, Hironao Numabe, et al.
Radiographics : a Review Publication of the Radiological Society of North America, Inc|June 4, 2026
Imaging Spectrum of Childhood Interstitial Lung Diseases: Focus on Disorders Not Specific to InfancyOrito Ikeda, Yuko Tsujioka, Gen Nishimura, et al.
American Journal of Medical Genetics. Part A|April 25, 2012
Complex genomic rearrangement in the SOX9 5' region in a patient with Pierre Robin sequence and hypoplastic left scapulaMaki Fukami, Takayoshi Tsuchiya, Shuji Takada, et al.
Pageof 34

Showing results (141-150 of 335) with videos related to

Sort By:
Pageof 34
Congenital Anomalies|November 30, 2004
Large fontanelles are a shared feature of haploinsufficiency of RUNX2 and its co-activator CBFBTomohide Goto, Michihiko Aramaki, Hiroshi Yoshihashi, et al.
Prenatal Diagnosis|February 3, 2004
Radiographic and genetic diagnosis of sporadic hypochondroplasia early in the neonatal periodSoromon Kataoka, Hideaki Sawai, Hideto Yamada, et al.
American Journal of Medical Genetics. Part A|April 29, 2010
De novo deletion of 1q24.3-q31.2 in a patient with severe growth retardationAkira Nishimura, Yoko Hiraki, Hiroko Shimoda, et al.
American Journal of Medical Genetics. Part A|June 18, 2014
Severe manifestations of hand-foot-genital syndrome associated with a novel HOXA13 mutationEri Imagawa, Hülya Kayserili, Gen Nishimura, et al.
Pediatric Radiology|August 6, 2016
Characteristic calcaneal ossification: an additional early radiographic finding in infants with fibrodysplasia ossificans progressivaSachi Hasegawa, Teresa Victoria, Hülya Kayserili, et al.
American Journal of Medical Genetics. Part A|April 16, 2005
Congenital anomaly of cervical vertebrae is a major complication of Rubinstein-Taybi syndromeToshiyuki Yamamoto, Kenji Kurosawa, Mitsuo Masuno, et al.
Skeletal Radiology|December 17, 2002
Autosomal dominant precocious osteoarthropathy due to a mutation of the cartilage oligomeric matrix protein (COMP) gene: further expansion of the phenotypic variations of COMP defectsHiroyuki Kawaji, Gen Nishimura, Sobei Watanabe, et al.
American Journal of Medical Genetics. Part A|December 7, 2013
Compound heterozygous deletions in pseudoautosomal region 1 in an infant with mild manifestations of langer mesomelic dysplasiaTakayoshi Tsuchiya, Minoru Shibata, Hironao Numabe, et al.
Radiographics : a Review Publication of the Radiological Society of North America, Inc|June 4, 2026
Imaging Spectrum of Childhood Interstitial Lung Diseases: Focus on Disorders Not Specific to InfancyOrito Ikeda, Yuko Tsujioka, Gen Nishimura, et al.
American Journal of Medical Genetics. Part A|April 25, 2012
Complex genomic rearrangement in the SOX9 5' region in a patient with Pierre Robin sequence and hypoplastic left scapulaMaki Fukami, Takayoshi Tsuchiya, Shuji Takada, et al.
Pageof 34