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Gen Nishimura

Showing results (291-300 of 335) with videos related to

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Nature Medicine|October 24, 2007
Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and humanShuichi Hiraoka, Tatsuya Furuichi, Gen Nishimura, et al.
Clinical Genetics|October 11, 2019
Skeletal abnormalities are common features in Aymé-Gripp syndromeMarcello Niceta, Domenico Barbuti, Neerja Gupta, et al.
Journal of Medical Genetics|January 29, 2020
Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesisAlicia B Byrne, Shuji Mizumoto, Peer Arts, et al.
The Journal of Clinical Endocrinology and Metabolism|March 5, 2009
Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patientsMaki Fukami, Gen Nishimura, Keiko Homma, et al.
Nature Communications|April 7, 2021
Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signalingLong Guo, Aritoshi Iida, Gandham SriLakshmi Bhavani, et al.
Human Mutation|November 18, 2014
Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfectaSung Yoon Cho, P V Asharani, Ok-Hwa Kim, et al.
Human Molecular Genetics|February 13, 2018
Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disordersTakeshi Mizuguchi, Mitsuko Nakashima, Mitsuhiro Kato, et al.
Journal of Medical Genetics|October 27, 2020
Biallelic cGMP-dependent type II protein kinase gene (<i>PRKG2</i>) variants cause a novel acromesomelic dysplasiaFrancisca Díaz-González, Saruchi Wadhwa, Maria Rodriguez-Zabala, et al.
Human Genetics|January 12, 2011
Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasiaSu Jin Kim, Tadeusz Bieganski, Young Bae Sohn, et al.
JCI Insight|February 8, 2019
Hypomorphic mutations of TRIP11 cause odontochondrodysplasiaAnika Wehrle, Tomasz M Witkos, Sheila Unger, et al.
Pageof 34

Showing results (291-300 of 335) with videos related to

Sort By:
Pageof 34
Nature Medicine|October 24, 2007
Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and humanShuichi Hiraoka, Tatsuya Furuichi, Gen Nishimura, et al.
Clinical Genetics|October 11, 2019
Skeletal abnormalities are common features in Aymé-Gripp syndromeMarcello Niceta, Domenico Barbuti, Neerja Gupta, et al.
Journal of Medical Genetics|January 29, 2020
Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesisAlicia B Byrne, Shuji Mizumoto, Peer Arts, et al.
The Journal of Clinical Endocrinology and Metabolism|March 5, 2009
Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patientsMaki Fukami, Gen Nishimura, Keiko Homma, et al.
Nature Communications|April 7, 2021
Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signalingLong Guo, Aritoshi Iida, Gandham SriLakshmi Bhavani, et al.
Human Mutation|November 18, 2014
Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfectaSung Yoon Cho, P V Asharani, Ok-Hwa Kim, et al.
Human Molecular Genetics|February 13, 2018
Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disordersTakeshi Mizuguchi, Mitsuko Nakashima, Mitsuhiro Kato, et al.
Journal of Medical Genetics|October 27, 2020
Biallelic cGMP-dependent type II protein kinase gene (<i>PRKG2</i>) variants cause a novel acromesomelic dysplasiaFrancisca Díaz-González, Saruchi Wadhwa, Maria Rodriguez-Zabala, et al.
Human Genetics|January 12, 2011
Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasiaSu Jin Kim, Tadeusz Bieganski, Young Bae Sohn, et al.
JCI Insight|February 8, 2019
Hypomorphic mutations of TRIP11 cause odontochondrodysplasiaAnika Wehrle, Tomasz M Witkos, Sheila Unger, et al.
Pageof 34