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Showing results (151-160 of 200) with videos related to

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Bone Reports|July 19, 2021
High bone mass phenotype in a cohort of patients with Osteogenesis Imperfecta caused due to <i>BMP1</i> and C-propeptide cleavage variants in <i>COL1A1</i>E H Campanini, D Baker, P Arundel, et al.
Bone|October 24, 2021
Monitoring Skull Base Abnormalities in Children with Osteogenesis Imperfecta - Review of Current Practice and a Suggested Clinical PathwayS Wadanamby, S El Garwany, Dja Connolly, et al.
Human Molecular Genetics|August 20, 2019
A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasiaCarsten Rautengarten, Oliver W Quarrell, Karen Stals, et al.
Science Progress|March 25, 2021
Rationale, design, and methods of a randomized, controlled, open-label clinical trial with open-label extension to investigate the safety of vosoritide in infants, and young children with achondroplasia at risk of requiring cervicomedullary decompression surgeryRavi Savarirayan, Melita Irving, Wirginia Maixner, et al.
Radiography (London, England : 1995)|January 24, 2026
Fracture detection using a low-dose computed tomography paediatric bone fracture phantom: A multi-reader study of radiographersE Doyle, J F Dipnall, M R Dimmock, et al.
Molecular Genetics and Metabolism|December 16, 2014
Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndromeJoel Charrow, Tord D Alden, Catherine Ann R Breathnach, et al.
Bone|March 5, 2023
Evaluation of two methods of bone age assessment in peripubertal children in ZimbabweFarirayi Kowo-Nyakoko, Celia L Gregson, Tafadzwa Madanhire, et al.
Prenatal Diagnosis|July 22, 2014
Diagnostic accuracy of postmortem MRI for musculoskeletal abnormalities in fetuses and childrenOwen J Arthurs, Sudhin Thayyil, Shea Addison, et al.
Journal of Medical Genetics|August 31, 2021
Expanding the phenotype of <i>SPARC</i>-related osteogenesis imperfecta: clinical findings in two patients with pathogenic variants in <i>SPARC</i> and literature reviewAnna Durkin, Catherine DeVile, Paul Arundel, et al.
Annals of the New York Academy of Sciences|January 22, 2009
Progress in the understanding of the genetic etiology of vertebral segmentation disorders in humansPhilip F Giampietro, Sally L Dunwoodie, Kenro Kusumi, et al.
Pageof 20

Showing results (151-160 of 200) with videos related to

Sort By:
Pageof 20
Bone Reports|July 19, 2021
High bone mass phenotype in a cohort of patients with Osteogenesis Imperfecta caused due to <i>BMP1</i> and C-propeptide cleavage variants in <i>COL1A1</i>E H Campanini, D Baker, P Arundel, et al.
Bone|October 24, 2021
Monitoring Skull Base Abnormalities in Children with Osteogenesis Imperfecta - Review of Current Practice and a Suggested Clinical PathwayS Wadanamby, S El Garwany, Dja Connolly, et al.
Human Molecular Genetics|August 20, 2019
A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasiaCarsten Rautengarten, Oliver W Quarrell, Karen Stals, et al.
Science Progress|March 25, 2021
Rationale, design, and methods of a randomized, controlled, open-label clinical trial with open-label extension to investigate the safety of vosoritide in infants, and young children with achondroplasia at risk of requiring cervicomedullary decompression surgeryRavi Savarirayan, Melita Irving, Wirginia Maixner, et al.
Radiography (London, England : 1995)|January 24, 2026
Fracture detection using a low-dose computed tomography paediatric bone fracture phantom: A multi-reader study of radiographersE Doyle, J F Dipnall, M R Dimmock, et al.
Molecular Genetics and Metabolism|December 16, 2014
Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndromeJoel Charrow, Tord D Alden, Catherine Ann R Breathnach, et al.
Bone|March 5, 2023
Evaluation of two methods of bone age assessment in peripubertal children in ZimbabweFarirayi Kowo-Nyakoko, Celia L Gregson, Tafadzwa Madanhire, et al.
Prenatal Diagnosis|July 22, 2014
Diagnostic accuracy of postmortem MRI for musculoskeletal abnormalities in fetuses and childrenOwen J Arthurs, Sudhin Thayyil, Shea Addison, et al.
Journal of Medical Genetics|August 31, 2021
Expanding the phenotype of <i>SPARC</i>-related osteogenesis imperfecta: clinical findings in two patients with pathogenic variants in <i>SPARC</i> and literature reviewAnna Durkin, Catherine DeVile, Paul Arundel, et al.
Annals of the New York Academy of Sciences|January 22, 2009
Progress in the understanding of the genetic etiology of vertebral segmentation disorders in humansPhilip F Giampietro, Sally L Dunwoodie, Kenro Kusumi, et al.
Pageof 20