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Gen Nishimura

Showing results (311-320 of 335) with videos related to

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American Journal of Medical Genetics. Part A|February 13, 2023
Nosology of genetic skeletal disorders: 2023 revisionSheila Unger, Carlos R Ferreira, Geert R Mortier, et al.
Journal of Human Genetics|April 2, 2024
Identification of a novel LFNG variant in a Chinese fetus with spondylocostal dysostosis and a systematic reviewLin Wang, Shuji Mizumoto, Ruixue Zhang, et al.
The New England Journal of Medicine|June 30, 2016
Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's DiseasePelin O Simsek Kiper, Hiroaki Saito, Francesca Gori, et al.
Human Mutation|December 23, 2011
Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severityPhilip B Daniel, Tim Morgan, Yasemin Alanay, et al.
Clinical Genetics|March 28, 2022
De novo heterozygous variants in KIF5B cause kyphomelic dysplasiaToshiyuki Itai, Zheng Wang, Gen Nishimura, et al.
American Journal of Human Genetics|May 21, 2013
FAM111A mutations result in hypoparathyroidism and impaired skeletal developmentSheila Unger, Maria W Górna, Antony Le Béchec, et al.
Plos One|March 15, 2016
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 MutationsZheng Wang, Aritoshi Iida, Noriko Miyake, et al.
American Journal of Human Genetics|December 14, 2011
Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic typeByung-Joo Min, Namshin Kim, Taesu Chung, et al.
American Journal of Medical Genetics. Part A|January 5, 2021
Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disordersLorenzo D Botto, Marie Meeths, Belinda Campos-Xavier, et al.
European Journal of Human Genetics : EJHG|December 20, 2024
Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasiaPrince Jacob, Swati Singh, Gandham SriLakshmi Bhavani, et al.
Pageof 34

Showing results (311-320 of 335) with videos related to

Sort By:
Pageof 34
American Journal of Medical Genetics. Part A|February 13, 2023
Nosology of genetic skeletal disorders: 2023 revisionSheila Unger, Carlos R Ferreira, Geert R Mortier, et al.
Journal of Human Genetics|April 2, 2024
Identification of a novel LFNG variant in a Chinese fetus with spondylocostal dysostosis and a systematic reviewLin Wang, Shuji Mizumoto, Ruixue Zhang, et al.
The New England Journal of Medicine|June 30, 2016
Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's DiseasePelin O Simsek Kiper, Hiroaki Saito, Francesca Gori, et al.
Human Mutation|December 23, 2011
Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severityPhilip B Daniel, Tim Morgan, Yasemin Alanay, et al.
Clinical Genetics|March 28, 2022
De novo heterozygous variants in KIF5B cause kyphomelic dysplasiaToshiyuki Itai, Zheng Wang, Gen Nishimura, et al.
American Journal of Human Genetics|May 21, 2013
FAM111A mutations result in hypoparathyroidism and impaired skeletal developmentSheila Unger, Maria W Górna, Antony Le Béchec, et al.
Plos One|March 15, 2016
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 MutationsZheng Wang, Aritoshi Iida, Noriko Miyake, et al.
American Journal of Human Genetics|December 14, 2011
Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic typeByung-Joo Min, Namshin Kim, Taesu Chung, et al.
American Journal of Medical Genetics. Part A|January 5, 2021
Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disordersLorenzo D Botto, Marie Meeths, Belinda Campos-Xavier, et al.
European Journal of Human Genetics : EJHG|December 20, 2024
Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasiaPrince Jacob, Swati Singh, Gandham SriLakshmi Bhavani, et al.
Pageof 34