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Gen Nishimura

Showing results (151-160 of 335) with videos related to

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Clinical Genetics|March 9, 2019
A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasiaYukiko Kuroda, Hiroaki Murakami, Yumi Enomoto, et al.
Journal of Biomolecular Structure & Dynamics|October 14, 2025
Novel Filamin genes variants implicated in skeletal dysplasias: integrated structural modeling and <i>in silico</i> functional characterizationMaha Yousaf, Ayesha Zaka, Shaheen Shahzad, et al.
American Journal of Medical Genetics. Part A|June 20, 2012
Platyspondylic lethal dysplasia torrance type with a heterozygous mutation in the triple helical domain of COL2A1 in two sibs from phenotypically normal parentsToshio Okamoto, Ken Nagaya, Hiroko Asai, et al.
American Journal of Medical Genetics. Part A|November 20, 2004
Novel COL9A3 mutation in a family with multiple epiphyseal dysplasiaEiji Nakashima, Hiroshi Kitoh, Koichi Maeda, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|July 25, 2006
Posterior reversible encephalopathy syndrome in children: its high prevalence and more extensive imaging findingsKenji Ishikura, Masahiro Ikeda, Yuko Hamasaki, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|August 9, 2013
A case report of dysosteosclerosis observed from the prenatal periodKisho Kobayashi, Yusuke Goto, Hiroaki Kise, et al.
Congenital Anomalies|July 27, 2017
Progressive subglottic stenosis in a child with Pallister-Killian syndromeTadashi Shiohama, Katsunori Fujii, Kenji Shimizu, et al.
American Journal of Medical Genetics. Part A|July 5, 2016
Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disordersKaren Y Niederhoffer, Somayyeh Fahiminiya, Patrice Eydoux, et al.
Journal of Human Genetics|June 27, 2007
A Japanese patient with a mild Lenz-Majewski syndromeSumito Dateki, Tatsuro Kondoh, Gen Nishimura, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 14, 2012
TRPV4-associated skeletal dysplasiasGen Nishimura, Ekkehart Lausch, Ravi Savarirayan, et al.
Pageof 34

Showing results (151-160 of 335) with videos related to

Sort By:
Pageof 34
Clinical Genetics|March 9, 2019
A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasiaYukiko Kuroda, Hiroaki Murakami, Yumi Enomoto, et al.
Journal of Biomolecular Structure & Dynamics|October 14, 2025
Novel Filamin genes variants implicated in skeletal dysplasias: integrated structural modeling and <i>in silico</i> functional characterizationMaha Yousaf, Ayesha Zaka, Shaheen Shahzad, et al.
American Journal of Medical Genetics. Part A|June 20, 2012
Platyspondylic lethal dysplasia torrance type with a heterozygous mutation in the triple helical domain of COL2A1 in two sibs from phenotypically normal parentsToshio Okamoto, Ken Nagaya, Hiroko Asai, et al.
American Journal of Medical Genetics. Part A|November 20, 2004
Novel COL9A3 mutation in a family with multiple epiphyseal dysplasiaEiji Nakashima, Hiroshi Kitoh, Koichi Maeda, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|July 25, 2006
Posterior reversible encephalopathy syndrome in children: its high prevalence and more extensive imaging findingsKenji Ishikura, Masahiro Ikeda, Yuko Hamasaki, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|August 9, 2013
A case report of dysosteosclerosis observed from the prenatal periodKisho Kobayashi, Yusuke Goto, Hiroaki Kise, et al.
Congenital Anomalies|July 27, 2017
Progressive subglottic stenosis in a child with Pallister-Killian syndromeTadashi Shiohama, Katsunori Fujii, Kenji Shimizu, et al.
American Journal of Medical Genetics. Part A|July 5, 2016
Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disordersKaren Y Niederhoffer, Somayyeh Fahiminiya, Patrice Eydoux, et al.
Journal of Human Genetics|June 27, 2007
A Japanese patient with a mild Lenz-Majewski syndromeSumito Dateki, Tatsuro Kondoh, Gen Nishimura, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 14, 2012
TRPV4-associated skeletal dysplasiasGen Nishimura, Ekkehart Lausch, Ravi Savarirayan, et al.
Pageof 34