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Gen Nishimura

Showing results (211-220 of 335) with videos related to

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BMC Medical Genetics|July 18, 2019
New PCNT candidate missense variant in a patient with oral and maxillofacial osteodysplasia: a case reportKen-Ichi Aoyama, Minoru Kimura, Hiroshi Yamazaki, et al.
Journal of Human Genetics|November 11, 2016
Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasiaLong Guo, Katta M Girisha, Aritoshi Iida, et al.
JBMR Plus|January 12, 2026
Transient neonatal hyperparathyroidism caused by a monoallelic <i>TRPV6</i> dominant negative variantJason Lam Shang Leen, Yoshiro Suzuki, Ai Ling Koh, et al.
American Journal of Medical Genetics. Part A|July 17, 2010
Late manifestations of tricho-rhino-pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthoodKosuke Izumi, Masaki Takagi, Aditi S Parikh, et al.
American Journal of Medical Genetics. Part A|February 5, 2008
Clinical and radiographic delineation of odontochondrodysplasiaSheila Unger, Franco Antoniazzi, Milena Brugnara, et al.
Journal of Human Genetics|March 24, 2018
Dysosteosclerosis is also caused by TNFRSF11A mutationLong Guo, Nursel H Elcioglu, Ozge K Karalar, et al.
HGG Advances|October 27, 2022
A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delayCameron Young, Dominyka Batkovskyte, Miyuki Kitamura, et al.
The British Journal of Radiology|June 23, 2023
Prenatal diagnosis of bone dysplasiasGen Nishimura, Atsuhiko Handa, Osamu Miyazaki, et al.
The Journal of Clinical Endocrinology and Metabolism|July 27, 2007
Intact kinase homology domain of natriuretic peptide receptor-B is essential for skeletal developmentRumi Hachiya, Yuko Ohashi, Yasutomi Kamei, et al.
Journal of Human Genetics|March 24, 2017
Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasiaLong Guo, Nursel H Elcioglu, Shuji Mizumoto, et al.
Pageof 34

Showing results (211-220 of 335) with videos related to

Sort By:
Pageof 34
BMC Medical Genetics|July 18, 2019
New PCNT candidate missense variant in a patient with oral and maxillofacial osteodysplasia: a case reportKen-Ichi Aoyama, Minoru Kimura, Hiroshi Yamazaki, et al.
Journal of Human Genetics|November 11, 2016
Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasiaLong Guo, Katta M Girisha, Aritoshi Iida, et al.
JBMR Plus|January 12, 2026
Transient neonatal hyperparathyroidism caused by a monoallelic <i>TRPV6</i> dominant negative variantJason Lam Shang Leen, Yoshiro Suzuki, Ai Ling Koh, et al.
American Journal of Medical Genetics. Part A|July 17, 2010
Late manifestations of tricho-rhino-pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthoodKosuke Izumi, Masaki Takagi, Aditi S Parikh, et al.
American Journal of Medical Genetics. Part A|February 5, 2008
Clinical and radiographic delineation of odontochondrodysplasiaSheila Unger, Franco Antoniazzi, Milena Brugnara, et al.
Journal of Human Genetics|March 24, 2018
Dysosteosclerosis is also caused by TNFRSF11A mutationLong Guo, Nursel H Elcioglu, Ozge K Karalar, et al.
HGG Advances|October 27, 2022
A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delayCameron Young, Dominyka Batkovskyte, Miyuki Kitamura, et al.
The British Journal of Radiology|June 23, 2023
Prenatal diagnosis of bone dysplasiasGen Nishimura, Atsuhiko Handa, Osamu Miyazaki, et al.
The Journal of Clinical Endocrinology and Metabolism|July 27, 2007
Intact kinase homology domain of natriuretic peptide receptor-B is essential for skeletal developmentRumi Hachiya, Yuko Ohashi, Yasutomi Kamei, et al.
Journal of Human Genetics|March 24, 2017
Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasiaLong Guo, Nursel H Elcioglu, Shuji Mizumoto, et al.
Pageof 34