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Pediatric Radiology
|
May 23, 2026
Imaging findings in pediatric interferonopathies
Yuko Tsujioka, Gen Nishimura, Shinya Hattori, et al.
Journal of Human Genetics
|
March 22, 2022
ACAN biallelic variants in a girl with severe idiopathic short stature
Yohei Masunaga, Yumiko Ohkubo, Gen Nishimura, et al.
American Journal of Medical Genetics
|
January 25, 2002
Camurati-Engelmann disease type II: progressive diaphyseal dysplasia with striations of the bones
Gen Nishimura, Hitoshi Nishimura, Yoko Tanaka, et al.
Journal of Bone and Mineral Metabolism
|
December 22, 2005
Genetic and enzymatic analysis for two Japanese patients with idiopathic infantile arterial calcification
Chikahiko Numakura, Makoto Yamada, Daisuke Ariyasu, et al.
Radiographics : a Review Publication of the Radiological Society of North America, Inc
|
May 28, 2026
Pediatric Rheumatic Disorders Revisited: Integrating Imaging and Pathophysiologic Insights across the Autoinflammatory-Autoimmune Continuum
Yuko Tsujioka, Atsuhiko Handa, Gen Nishimura, et al.
American Journal of Medical Genetics. Part A
|
September 1, 2021
Antenatal diagnostic dilemma in a pseudodominant pedigree with lamin-B receptor (LBR)-related regressive spondylometaphyseal dysplasia
Gozde Tutku Turgut, Çağrı Güleç, Tugba Sarac Sivrikoz, et al.
Clinical Dysmorphology
|
June 3, 2017
Familial unilateral carpal bone dysplasia in mother and daughter
Tatsuo Fuchigami, Yukihiko Fujita, Mika Oyama, et al.
Congenital Anomalies
|
November 28, 2012
Prenatal diagnosis of osteogenesis imperfecta type II by three-dimensional computed tomography: the current state of fetal computed tomography
Yoshika Akizawa, Gen Nishimura, Tomonobu Hasegawa, et al.
American Journal of Medical Genetics. Part A
|
February 13, 2017
A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency
Masaki Takagi, Kazushige Dobashi, Keiko Nagahara, et al.
American Journal of Medical Genetics. Part A
|
January 25, 2014
A de novo 1.4-Mb deletion at 21q22.11 in a boy with developmental delay
Ryoko Fukai, Yoko Hiraki, Gen Nishimura, et al.
Page
of 34
Search research articles
Search
Showing results (111-120 of 335) with videos related to
Sort By:
Page
of 34
Pediatric Radiology
|
May 23, 2026
Imaging findings in pediatric interferonopathies
Yuko Tsujioka, Gen Nishimura, Shinya Hattori, et al.
Journal of Human Genetics
|
March 22, 2022
ACAN biallelic variants in a girl with severe idiopathic short stature
Yohei Masunaga, Yumiko Ohkubo, Gen Nishimura, et al.
American Journal of Medical Genetics
|
January 25, 2002
Camurati-Engelmann disease type II: progressive diaphyseal dysplasia with striations of the bones
Gen Nishimura, Hitoshi Nishimura, Yoko Tanaka, et al.
Journal of Bone and Mineral Metabolism
|
December 22, 2005
Genetic and enzymatic analysis for two Japanese patients with idiopathic infantile arterial calcification
Chikahiko Numakura, Makoto Yamada, Daisuke Ariyasu, et al.
Radiographics : a Review Publication of the Radiological Society of North America, Inc
|
May 28, 2026
Pediatric Rheumatic Disorders Revisited: Integrating Imaging and Pathophysiologic Insights across the Autoinflammatory-Autoimmune Continuum
Yuko Tsujioka, Atsuhiko Handa, Gen Nishimura, et al.
American Journal of Medical Genetics. Part A
|
September 1, 2021
Antenatal diagnostic dilemma in a pseudodominant pedigree with lamin-B receptor (LBR)-related regressive spondylometaphyseal dysplasia
Gozde Tutku Turgut, Çağrı Güleç, Tugba Sarac Sivrikoz, et al.
Clinical Dysmorphology
|
June 3, 2017
Familial unilateral carpal bone dysplasia in mother and daughter
Tatsuo Fuchigami, Yukihiko Fujita, Mika Oyama, et al.
Congenital Anomalies
|
November 28, 2012
Prenatal diagnosis of osteogenesis imperfecta type II by three-dimensional computed tomography: the current state of fetal computed tomography
Yoshika Akizawa, Gen Nishimura, Tomonobu Hasegawa, et al.
American Journal of Medical Genetics. Part A
|
February 13, 2017
A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency
Masaki Takagi, Kazushige Dobashi, Keiko Nagahara, et al.
American Journal of Medical Genetics. Part A
|
January 25, 2014
A de novo 1.4-Mb deletion at 21q22.11 in a boy with developmental delay
Ryoko Fukai, Yoko Hiraki, Gen Nishimura, et al.
Page
of 34