Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

John Shoffner

Showing results (1-10 of 20) with videos related to

Pageof 2
Sort By:
Molecular Genetics and Metabolism Reports|July 20, 2018
Retrospective analysis of small cohorts does not support therapeutic efficacy of l-arginineJohn Shoffner
Neurology|December 28, 2016
Author response: CSF concentrations of 5-methyltetrahydrofolate in a cohort of young children with autismJohn Shoffner
Journal of Inherited Metabolic Disease|July 30, 2010
Cerebral folate deficiencyKeith Hyland, John Shoffner, Simon J Heales
Seminars in Pediatric Neurology|December 17, 2008
Siblings with leukoencephalopathyGalen N Breningstall, John Shoffner, Richard J Patterson
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|February 1, 2018
Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemiaLily Wu, Lauren Brady, John Shoffner, et al.
Journal of Child Neurology|March 29, 2006
Developmental regression and mitochondrial dysfunction in a child with autismJon S Poling, Richard E Frye, John Shoffner, et al.
Molecular Genetics and Metabolism Reports|March 4, 2016
Complex III deficiency due to an in-frame MT-CYB deletion presenting as ketotic hypoglycemia and lactic acidosisMari Mori, Jennifer Goldstein, Sarah P Young, et al.
Neuromuscular Disorders : NMD|November 4, 2009
Autosomal recessive inheritance of classic Bethlem myopathyA Reghan Foley, Ying Hu, Yaqun Zou, et al.
Neurology. Genetics|June 14, 2019
Hybrid gel electrophoresis using skin fibroblasts to aid in diagnosing mitochondrial diseaseChristopher Newell, Aneal Khan, David Sinasac, et al.
American Journal of Medical Genetics. Part A|March 18, 2011
Infantile cardioencephalopathy due to a COX15 gene defect: report and reviewMajid Alfadhel, Yolanda P Lillquist, Paula J Waters, et al.
Pageof 2

Showing results (1-10 of 20) with videos related to

Sort By:
Pageof 2
Molecular Genetics and Metabolism Reports|July 20, 2018
Retrospective analysis of small cohorts does not support therapeutic efficacy of l-arginineJohn Shoffner
Neurology|December 28, 2016
Author response: CSF concentrations of 5-methyltetrahydrofolate in a cohort of young children with autismJohn Shoffner
Journal of Inherited Metabolic Disease|July 30, 2010
Cerebral folate deficiencyKeith Hyland, John Shoffner, Simon J Heales
Seminars in Pediatric Neurology|December 17, 2008
Siblings with leukoencephalopathyGalen N Breningstall, John Shoffner, Richard J Patterson
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|February 1, 2018
Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemiaLily Wu, Lauren Brady, John Shoffner, et al.
Journal of Child Neurology|March 29, 2006
Developmental regression and mitochondrial dysfunction in a child with autismJon S Poling, Richard E Frye, John Shoffner, et al.
Molecular Genetics and Metabolism Reports|March 4, 2016
Complex III deficiency due to an in-frame MT-CYB deletion presenting as ketotic hypoglycemia and lactic acidosisMari Mori, Jennifer Goldstein, Sarah P Young, et al.
Neuromuscular Disorders : NMD|November 4, 2009
Autosomal recessive inheritance of classic Bethlem myopathyA Reghan Foley, Ying Hu, Yaqun Zou, et al.
Neurology. Genetics|June 14, 2019
Hybrid gel electrophoresis using skin fibroblasts to aid in diagnosing mitochondrial diseaseChristopher Newell, Aneal Khan, David Sinasac, et al.
American Journal of Medical Genetics. Part A|March 18, 2011
Infantile cardioencephalopathy due to a COX15 gene defect: report and reviewMajid Alfadhel, Yolanda P Lillquist, Paula J Waters, et al.
Pageof 2