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Gen Nishimura

Showing results (271-280 of 335) with videos related to

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European Journal of Human Genetics : EJHG|October 30, 2025
Missense variants in homeobox domain of PBX1 cause coracoclavicular ankylosisMaki Iwai, Kyra E Stuurman, Kirsten Meagher, et al.
American Journal of Medical Genetics. Part A|December 20, 2013
Aortic aneurysm and craniosynostosis in a family with Cantu syndromeYoko Hiraki, Satoko Miyatake, Michiko Hayashidani, et al.
American Journal of Human Genetics|June 3, 2008
Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosisPia Hermanns, Sheila Unger, Antonio Rossi, et al.
American Journal of Medical Genetics. Part A|November 22, 2017
Discordant fetal phenotype of hypophosphatasia in two siblingsSatoru Ikenoue, Kei Miyakoshi, Tomohiro Ishii, et al.
American Journal of Medical Genetics. Part A|December 13, 2017
Cover Image, Volume 176A, Number 1, January 2018Satoru Ikenoue, Kei Miyakoshi, Tomohiro Ishii, et al.
Journal of Medical Genetics|November 2, 2010
CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variantTatsuya Furuichi, Jin Dai, Tae-Joon Cho, et al.
Journal of Medical Genetics|April 9, 2016
Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneityAritoshi Iida, Weirong Xing, Martine K F Docx, et al.
American Journal of Medical Genetics. Part A|March 16, 2012
TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patientsTae-Joon Cho, Kazu Matsumoto, Virginia Fano, et al.
Journal of Medical Genetics|June 3, 2015
Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan typeRicarda Flöttmann, Johannes Wagner, Karolina Kobus, et al.
European Journal of Human Genetics : EJHG|July 24, 2019
Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2)Kaori Yamoto, Hirotomo Saitsu, Gen Nishimura, et al.
Pageof 34

Showing results (271-280 of 335) with videos related to

Sort By:
Pageof 34
European Journal of Human Genetics : EJHG|October 30, 2025
Missense variants in homeobox domain of PBX1 cause coracoclavicular ankylosisMaki Iwai, Kyra E Stuurman, Kirsten Meagher, et al.
American Journal of Medical Genetics. Part A|December 20, 2013
Aortic aneurysm and craniosynostosis in a family with Cantu syndromeYoko Hiraki, Satoko Miyatake, Michiko Hayashidani, et al.
American Journal of Human Genetics|June 3, 2008
Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosisPia Hermanns, Sheila Unger, Antonio Rossi, et al.
American Journal of Medical Genetics. Part A|November 22, 2017
Discordant fetal phenotype of hypophosphatasia in two siblingsSatoru Ikenoue, Kei Miyakoshi, Tomohiro Ishii, et al.
American Journal of Medical Genetics. Part A|December 13, 2017
Cover Image, Volume 176A, Number 1, January 2018Satoru Ikenoue, Kei Miyakoshi, Tomohiro Ishii, et al.
Journal of Medical Genetics|November 2, 2010
CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variantTatsuya Furuichi, Jin Dai, Tae-Joon Cho, et al.
Journal of Medical Genetics|April 9, 2016
Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneityAritoshi Iida, Weirong Xing, Martine K F Docx, et al.
American Journal of Medical Genetics. Part A|March 16, 2012
TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patientsTae-Joon Cho, Kazu Matsumoto, Virginia Fano, et al.
Journal of Medical Genetics|June 3, 2015
Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan typeRicarda Flöttmann, Johannes Wagner, Karolina Kobus, et al.
European Journal of Human Genetics : EJHG|July 24, 2019
Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2)Kaori Yamoto, Hirotomo Saitsu, Gen Nishimura, et al.
Pageof 34