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Gen Nishimura

Showing results (201-210 of 335) with videos related to

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Human Genome Variation|May 8, 2021
Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndromeJong Seop Kim, Hyoungseok Jeon, Hyeran Lee, et al.
American Journal of Medical Genetics. Part A|July 29, 2003
Spondyloepiphyseal dysplasia Maroteaux type: report of three patients from two families and exclusion of type II collagen defectsGen Nishimura, Rika Kizu, Yoshimaro Kijima, et al.
Human Mutation|May 17, 2005
The phenotypic spectrum of COL2A1 mutationsGen Nishimura, Nobuhiko Haga, Hiroshi Kitoh, et al.
Human Mutation|October 2, 2004
Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasiaAkihiko Mabuchi, Nobuhiko Haga, Koichi Maeda, et al.
American Journal of Medical Genetics. Part A|November 19, 2009
Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasiaYuka Wada, Gen Nishimura, Toshiro Nagai, et al.
Radiographics : a Review Publication of the Radiological Society of North America, Inc|April 11, 2024
RASopathies for RadiologistsAtsuhiko Handa, Yuko Tsujioka, Gen Nishimura, et al.
American Journal of Medical Genetics. Part A|May 20, 2004
Isolated congenital anosmia with morphologically normal olfactory bulb in two Iranian families: a new clinical entity?Mohsen Ghadami, Keyvan Majidzadeh-A, Saeid Morovvati, et al.
Journal of Medical Genetics|June 26, 2010
A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1Tae-Joon Cho, Ok-Hwa Kim, In Ho Choi, et al.
Journal of Human Genetics|May 4, 2007
A syndactyly type IV locus maps to 7q36Daisuke Sato, Desheng Liang, Lingqian Wu, et al.
Prenatal Diagnosis|July 9, 2022
Prenatal ultrasonographic features in Blomstrand osteochondrodysplasia: Antenatal case series confirmed by postmortem radiology and molecular diagnosisTugba Sarac Sivrikoz, Tugba Kalayci, Leyli Senturk, et al.
Pageof 34

Showing results (201-210 of 335) with videos related to

Sort By:
Pageof 34
Human Genome Variation|May 8, 2021
Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndromeJong Seop Kim, Hyoungseok Jeon, Hyeran Lee, et al.
American Journal of Medical Genetics. Part A|July 29, 2003
Spondyloepiphyseal dysplasia Maroteaux type: report of three patients from two families and exclusion of type II collagen defectsGen Nishimura, Rika Kizu, Yoshimaro Kijima, et al.
Human Mutation|May 17, 2005
The phenotypic spectrum of COL2A1 mutationsGen Nishimura, Nobuhiko Haga, Hiroshi Kitoh, et al.
Human Mutation|October 2, 2004
Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasiaAkihiko Mabuchi, Nobuhiko Haga, Koichi Maeda, et al.
American Journal of Medical Genetics. Part A|November 19, 2009
Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasiaYuka Wada, Gen Nishimura, Toshiro Nagai, et al.
Radiographics : a Review Publication of the Radiological Society of North America, Inc|April 11, 2024
RASopathies for RadiologistsAtsuhiko Handa, Yuko Tsujioka, Gen Nishimura, et al.
American Journal of Medical Genetics. Part A|May 20, 2004
Isolated congenital anosmia with morphologically normal olfactory bulb in two Iranian families: a new clinical entity?Mohsen Ghadami, Keyvan Majidzadeh-A, Saeid Morovvati, et al.
Journal of Medical Genetics|June 26, 2010
A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1Tae-Joon Cho, Ok-Hwa Kim, In Ho Choi, et al.
Journal of Human Genetics|May 4, 2007
A syndactyly type IV locus maps to 7q36Daisuke Sato, Desheng Liang, Lingqian Wu, et al.
Prenatal Diagnosis|July 9, 2022
Prenatal ultrasonographic features in Blomstrand osteochondrodysplasia: Antenatal case series confirmed by postmortem radiology and molecular diagnosisTugba Sarac Sivrikoz, Tugba Kalayci, Leyli Senturk, et al.
Pageof 34