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Gen Nishimura

Showing results (11-20 of 334) with videos related to

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European Journal of Medical Genetics|March 6, 2012
Clinical and radiological findings in Pallister-Killian syndromeSaumya Jamuar, Angeline Lai, Sheila Unger, et al.
Genome|December 10, 2003
Two kinds of sex ratio distorters in a moth, Ostrinia scapulalisDaisuke Kageyama, Gen Nishimura, Sugihiko Hoshizaki, et al.
American Journal of Medical Genetics. Part A|August 21, 2007
A family with an autosomal dominant mesomelic dysplasia resembling mesomelic dysplasia Savarirayan and Nievergelt typesMihoko Nakamura, Yukihisa Matsuda, Masaru Higo, et al.
American Journal of Medical Genetics. Part A|July 1, 2016
A patient with Temple syndrome satisfying the clinical diagnostic criteria of Silver-Russell syndromeMasahide Goto, Masayo Kagami, Gen Nishimura, et al.
Pediatric Radiology|May 25, 2011
Radiological evaluation of dysmorphic thorax of paternal uniparental disomy 14Osamu Miyazaki, Gen Nishimura, Masayo Kagami, et al.
Human Genome Variation|April 16, 2016
Osteogenesis imperfecta IIC caused by a novel heterozygous mutation in the C-propeptide region of COL1A1Masaki Takagi, Mitsuru Matsushita, Gen Nishimura, et al.
Human Genome Variation|December 10, 2020
A novel mutation in the ACAN gene in a family with autosomal dominant short stature and intervertebral disc diseaseNoboru Uchida, Hironori Shibata, Gen Nishimura, et al.
Case Reports in Pediatrics|December 27, 2016
Stickler Syndrome Type 1 with Short Stature and Atypical Ocular ManifestationsManisha Goyal, Seema Kapoor, Shiro Ikegawa, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|May 20, 2010
Progressive osseous heteroplasia caused by a novel nonsense mutation in the GNAS1 geneMasahiro Goto, Hiroyo Mabe, Gen Nishimura, et al.
Pediatric Radiology|March 18, 2015
Craniovertebral junction stenosis in Lenz-Majewski syndromeKoichi Mizuguchi, Osamu Miyazaki, Gen Nishimura, et al.
Pageof 34

Showing results (11-20 of 334) with videos related to

Sort By:
Pageof 34
European Journal of Medical Genetics|March 6, 2012
Clinical and radiological findings in Pallister-Killian syndromeSaumya Jamuar, Angeline Lai, Sheila Unger, et al.
Genome|December 10, 2003
Two kinds of sex ratio distorters in a moth, Ostrinia scapulalisDaisuke Kageyama, Gen Nishimura, Sugihiko Hoshizaki, et al.
American Journal of Medical Genetics. Part A|August 21, 2007
A family with an autosomal dominant mesomelic dysplasia resembling mesomelic dysplasia Savarirayan and Nievergelt typesMihoko Nakamura, Yukihisa Matsuda, Masaru Higo, et al.
American Journal of Medical Genetics. Part A|July 1, 2016
A patient with Temple syndrome satisfying the clinical diagnostic criteria of Silver-Russell syndromeMasahide Goto, Masayo Kagami, Gen Nishimura, et al.
Pediatric Radiology|May 25, 2011
Radiological evaluation of dysmorphic thorax of paternal uniparental disomy 14Osamu Miyazaki, Gen Nishimura, Masayo Kagami, et al.
Human Genome Variation|April 16, 2016
Osteogenesis imperfecta IIC caused by a novel heterozygous mutation in the C-propeptide region of COL1A1Masaki Takagi, Mitsuru Matsushita, Gen Nishimura, et al.
Human Genome Variation|December 10, 2020
A novel mutation in the ACAN gene in a family with autosomal dominant short stature and intervertebral disc diseaseNoboru Uchida, Hironori Shibata, Gen Nishimura, et al.
Case Reports in Pediatrics|December 27, 2016
Stickler Syndrome Type 1 with Short Stature and Atypical Ocular ManifestationsManisha Goyal, Seema Kapoor, Shiro Ikegawa, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|May 20, 2010
Progressive osseous heteroplasia caused by a novel nonsense mutation in the GNAS1 geneMasahiro Goto, Hiroyo Mabe, Gen Nishimura, et al.
Pediatric Radiology|March 18, 2015
Craniovertebral junction stenosis in Lenz-Majewski syndromeKoichi Mizuguchi, Osamu Miyazaki, Gen Nishimura, et al.
Pageof 34