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Journal of Human Genetics
|
September 20, 2018
A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination
Masaki Takagi, Satoshi Shimomura, Ryuji Fukuzawa, et al.
Prenatal Diagnosis
|
April 3, 2009
Platyspondylic lethal skeletal dysplasia San Diego type (thanatophoric dysplasia type 1) associated with trisomy 21 presenting with nuchal translucency: a case report
Takahiro Yamada, Hideaki Sawai, Gen Nishimura, et al.
The Spine Journal : Official Journal of the North American Spine Society
|
March 26, 2013
A neonate with an anomalous bone attached to the cervical spine
Yuya Nakano, Madoka Aizawa, Yuko Kako, et al.
Japanese Journal of Radiology
|
June 17, 2023
Imaging findings of juvenile idiopathic arthritis and autoinflammatory diseases in children
Yuko Tsujioka, Gen Nishimura, Hideharu Sugimoto, et al.
American Journal of Medical Genetics. Part A
|
September 15, 2005
Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls
Tomoki Kosho, Jun Takahashi, Hirofumi Ohashi, et al.
Skeletal Radiology
|
January 19, 2022
BCG osteomyelitis: tips for diagnosis
Yuko Tsujioka, Taiki Nozaki, Gen Nishimura, et al.
American Journal of Medical Genetics. Part A
|
February 4, 2012
Radiological clues to the early diagnosis of hypochondroplasia in the neonatal period: report of two patients
Tomoko Saito, Keisuke Nagasaki, Gen Nishimura, et al.
American Journal of Medical Genetics. Part A
|
March 18, 2011
Spondylometaphyseal dysplasia with cone-rod dystrophy
Hiroshi Kitoh, Hiroshi Kaneko, Mineo Kondo, et al.
Congenital Anomalies
|
April 10, 2014
Prenatal diagnosis of cervical spinal cord compression in chondrodysplasia punctata brachytelephalangic type: A case report and literature review
Daigo Ochiai, Kyoko Takamura, Gen Nishimura, et al.
American Journal of Medical Genetics. Part A
|
June 24, 2004
Newly recognized syndrome of metaphyseal undermodeling, spondylar dysplasia, and overgrowth: report of two adolescents and a child
Gen Nishimura, Tomonobu Hasegawa, Eiichi Kinoshita, et al.
Page
of 34
Search research articles
Search
Showing results (61-70 of 334) with videos related to
Sort By:
Page
of 34
Journal of Human Genetics
|
September 20, 2018
A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination
Masaki Takagi, Satoshi Shimomura, Ryuji Fukuzawa, et al.
Prenatal Diagnosis
|
April 3, 2009
Platyspondylic lethal skeletal dysplasia San Diego type (thanatophoric dysplasia type 1) associated with trisomy 21 presenting with nuchal translucency: a case report
Takahiro Yamada, Hideaki Sawai, Gen Nishimura, et al.
The Spine Journal : Official Journal of the North American Spine Society
|
March 26, 2013
A neonate with an anomalous bone attached to the cervical spine
Yuya Nakano, Madoka Aizawa, Yuko Kako, et al.
Japanese Journal of Radiology
|
June 17, 2023
Imaging findings of juvenile idiopathic arthritis and autoinflammatory diseases in children
Yuko Tsujioka, Gen Nishimura, Hideharu Sugimoto, et al.
American Journal of Medical Genetics. Part A
|
September 15, 2005
Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls
Tomoki Kosho, Jun Takahashi, Hirofumi Ohashi, et al.
Skeletal Radiology
|
January 19, 2022
BCG osteomyelitis: tips for diagnosis
Yuko Tsujioka, Taiki Nozaki, Gen Nishimura, et al.
American Journal of Medical Genetics. Part A
|
February 4, 2012
Radiological clues to the early diagnosis of hypochondroplasia in the neonatal period: report of two patients
Tomoko Saito, Keisuke Nagasaki, Gen Nishimura, et al.
American Journal of Medical Genetics. Part A
|
March 18, 2011
Spondylometaphyseal dysplasia with cone-rod dystrophy
Hiroshi Kitoh, Hiroshi Kaneko, Mineo Kondo, et al.
Congenital Anomalies
|
April 10, 2014
Prenatal diagnosis of cervical spinal cord compression in chondrodysplasia punctata brachytelephalangic type: A case report and literature review
Daigo Ochiai, Kyoko Takamura, Gen Nishimura, et al.
American Journal of Medical Genetics. Part A
|
June 24, 2004
Newly recognized syndrome of metaphyseal undermodeling, spondylar dysplasia, and overgrowth: report of two adolescents and a child
Gen Nishimura, Tomonobu Hasegawa, Eiichi Kinoshita, et al.
Page
of 34