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Gen Nishimura

Showing results (241-250 of 335) with videos related to

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European Journal of Medical Genetics|May 31, 2020
Unique skeletal manifestations in patients with Primrose syndromeVeronica Arora, Eyby Leon, Jullianne Diaz, et al.
Spine|March 25, 2017
Rigid Occipitocervical Instrumented Fusion for Atlantoaxial Instability in an 18-Month-Old Toddler With Brachytelephalangic Chondrodysplasia Punctata: A Case ReportHiroki Oba, Jun Takahashi, Kyoko Takano, et al.
American Journal of Medical Genetics. Part A|March 23, 2017
Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2Shahida Moosa, Annette Haagerup, Pernille Axel Gregersen, et al.
American Journal of Medical Genetics. Part A|December 28, 2020
Metacarpophalangeal pattern profile analysis for a 3-month-old infant with Feingold syndrome 2Aiko Isobe, Naonori Maeda, Hisayo Fujita, et al.
Journal of Human Genetics|February 29, 2024
Dyssegmental dysplasia Rolland-Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patientsPaniz Farshadyeganeh, Takahiro Yamada, Hirofumi Ohashi, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|November 28, 2017
Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2Gabriela Ferraz Leal, Gen Nishimura, Ulrika Voss, et al.
Human Genetics|December 17, 2002
Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctataShuya Shirahama, Akira Miyahara, Hiroshi Kitoh, et al.
American Journal of Medical Genetics. Part A|July 22, 2014
Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2Toshikatsu Mitsui, Ok-Hwa Kim, Christine M Hall, et al.
Journal of Human Genetics|February 3, 2025
A novel missense pathogenic variants of TMEM53 in an Iranian family with craniotubular dysplasia, Ikegawa typeKaitao Ren, Niloofar Pirmarzdashti, Farzad Pakdel, et al.
Journal of Human Genetics|April 5, 2013
Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasiaAritoshi Iida, Nobuhiko Okamoto, Noriko Miyake, et al.
Pageof 34

Showing results (241-250 of 335) with videos related to

Sort By:
Pageof 34
European Journal of Medical Genetics|May 31, 2020
Unique skeletal manifestations in patients with Primrose syndromeVeronica Arora, Eyby Leon, Jullianne Diaz, et al.
Spine|March 25, 2017
Rigid Occipitocervical Instrumented Fusion for Atlantoaxial Instability in an 18-Month-Old Toddler With Brachytelephalangic Chondrodysplasia Punctata: A Case ReportHiroki Oba, Jun Takahashi, Kyoko Takano, et al.
American Journal of Medical Genetics. Part A|March 23, 2017
Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2Shahida Moosa, Annette Haagerup, Pernille Axel Gregersen, et al.
American Journal of Medical Genetics. Part A|December 28, 2020
Metacarpophalangeal pattern profile analysis for a 3-month-old infant with Feingold syndrome 2Aiko Isobe, Naonori Maeda, Hisayo Fujita, et al.
Journal of Human Genetics|February 29, 2024
Dyssegmental dysplasia Rolland-Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patientsPaniz Farshadyeganeh, Takahiro Yamada, Hirofumi Ohashi, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|November 28, 2017
Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2Gabriela Ferraz Leal, Gen Nishimura, Ulrika Voss, et al.
Human Genetics|December 17, 2002
Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctataShuya Shirahama, Akira Miyahara, Hiroshi Kitoh, et al.
American Journal of Medical Genetics. Part A|July 22, 2014
Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2Toshikatsu Mitsui, Ok-Hwa Kim, Christine M Hall, et al.
Journal of Human Genetics|February 3, 2025
A novel missense pathogenic variants of TMEM53 in an Iranian family with craniotubular dysplasia, Ikegawa typeKaitao Ren, Niloofar Pirmarzdashti, Farzad Pakdel, et al.
Journal of Human Genetics|April 5, 2013
Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasiaAritoshi Iida, Nobuhiko Okamoto, Noriko Miyake, et al.
Pageof 34