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Gen Nishimura

Showing results (81-90 of 334) with videos related to

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Prenatal Diagnosis|November 28, 2002
Prenatal diagnosis of atelosteogenesis type I at 21 weeks' gestationKazunori Ueno, Mamoru Tanaka, Kei Miyakoshi, et al.
Journal of Human Genetics|August 8, 2019
De novo AFF3 variant in a patient with mesomelic dysplasia with foot malformationDaisuke Shimizu, Rieko Sakamoto, Kaori Yamoto, et al.
American Journal of Medical Genetics. Part A|July 22, 2004
Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutationsAkihiko Mabuchi, Shigeki Momohara, Hirofumi Ohashi, et al.
Pediatric Research|January 28, 2006
Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: diagnostic value of urine steroid hormone analysisMaki Fukami, Tomonobu Hasegawa, Reiko Horikawa, et al.
Prenatal Diagnosis|November 14, 2009
Prenatal diagnosis of platyspondylic skeletal dysplasia Torrance type with three-dimensional helical computed tomographyShunsuke Tamaru, Akihiko Kikuchi, Kimiyo Takagi, et al.
American Journal of Medical Genetics. Part A|June 29, 2010
Ruvalcaba syndrome revisitedMasanori Adachi, Koji Muroya, Yumi Asakura, et al.
Molecular Syndromology|July 14, 2020
Novel Clinical and Radiological Findings in a Family with Autosomal Recessive OmodysplasiaAllan Bayat, Morton Dunø, Maria Kirchhoff, et al.
American Journal of Medical Genetics. Part A|February 1, 2018
Nonsense mutations in FZD2 cause autosomal-dominant omodysplasia: Robinow syndrome-like phenotypesKeisuke Nagasaki, Gen Nishimura, Toru Kikuchi, et al.
American Journal of Medical Genetics. Part A|November 4, 2004
Novel and recurrent exon 13 mutations of COMP in pseudoachondroplasiaEiji Nakashima, Akihiko Mabuchi, Mitsuru Kubota, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|August 8, 2018
A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in <i>TRAPPC2</i>Mami Fukuma, Masaki Takagi, Tomoyuki Shimazu, et al.
Pageof 34

Showing results (81-90 of 334) with videos related to

Sort By:
Pageof 34
Prenatal Diagnosis|November 28, 2002
Prenatal diagnosis of atelosteogenesis type I at 21 weeks' gestationKazunori Ueno, Mamoru Tanaka, Kei Miyakoshi, et al.
Journal of Human Genetics|August 8, 2019
De novo AFF3 variant in a patient with mesomelic dysplasia with foot malformationDaisuke Shimizu, Rieko Sakamoto, Kaori Yamoto, et al.
American Journal of Medical Genetics. Part A|July 22, 2004
Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutationsAkihiko Mabuchi, Shigeki Momohara, Hirofumi Ohashi, et al.
Pediatric Research|January 28, 2006
Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: diagnostic value of urine steroid hormone analysisMaki Fukami, Tomonobu Hasegawa, Reiko Horikawa, et al.
Prenatal Diagnosis|November 14, 2009
Prenatal diagnosis of platyspondylic skeletal dysplasia Torrance type with three-dimensional helical computed tomographyShunsuke Tamaru, Akihiko Kikuchi, Kimiyo Takagi, et al.
American Journal of Medical Genetics. Part A|June 29, 2010
Ruvalcaba syndrome revisitedMasanori Adachi, Koji Muroya, Yumi Asakura, et al.
Molecular Syndromology|July 14, 2020
Novel Clinical and Radiological Findings in a Family with Autosomal Recessive OmodysplasiaAllan Bayat, Morton Dunø, Maria Kirchhoff, et al.
American Journal of Medical Genetics. Part A|February 1, 2018
Nonsense mutations in FZD2 cause autosomal-dominant omodysplasia: Robinow syndrome-like phenotypesKeisuke Nagasaki, Gen Nishimura, Toru Kikuchi, et al.
American Journal of Medical Genetics. Part A|November 4, 2004
Novel and recurrent exon 13 mutations of COMP in pseudoachondroplasiaEiji Nakashima, Akihiko Mabuchi, Mitsuru Kubota, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|August 8, 2018
A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in <i>TRAPPC2</i>Mami Fukuma, Masaki Takagi, Tomoyuki Shimazu, et al.
Pageof 34