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John Shoffner

Showing results (11-20 of 20) with videos related to

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Journal of Child Neurology|September 24, 2009
Fever plus mitochondrial disease could be risk factors for autistic regressionJohn Shoffner, Lauren Hyams, Genevieve Niedziela Langley, et al.
Neurology|May 15, 2016
CSF concentrations of 5-methyltetrahydrofolate in a cohort of young children with autismJohn Shoffner, Barbara Trommer, Audrey Thurm, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 6, 2012
A novel de novo pathogenic mutation in the CACNA1A geneShinsuke Fujioka, Sruti Rayaprolu, Christina Sundal, et al.
NPJ Microgravity|October 14, 2024
Surface tension enables induced pluripotent stem cell culture in commercially available hardware during spaceflightMaedeh Mozneb, Madelyn Arzt, Pinar Mesci, et al.
Journal of Inherited Metabolic Disease|October 6, 2017
Erratum to: Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke projectAmel Karaa, Shamima Rahman, Anne Lombès, et al.
Journal of Inherited Metabolic Disease|March 18, 2017
Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke projectAmel Karaa, Shamima Rahman, Anne Lombès, et al.
Journal of Neuromuscular Diseases|March 13, 2023
Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG)Richard S Finkel, Basil T Darras, Jerry R Mendell, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2017
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine SocietySumit Parikh, Amy Goldstein, Amel Karaa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 8, 2017
Response to Newman et alSumit Parikh, Amy Goldstein, Amel Karaa, et al.
Nature Genetics|November 5, 2003
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)Koki Yamada, Caroline Andrews, Wai-Man Chan, et al.
Pageof 2

Showing results (11-20 of 20) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 20 results.
Journal of Child Neurology|September 24, 2009
Fever plus mitochondrial disease could be risk factors for autistic regressionJohn Shoffner, Lauren Hyams, Genevieve Niedziela Langley, et al.
Neurology|May 15, 2016
CSF concentrations of 5-methyltetrahydrofolate in a cohort of young children with autismJohn Shoffner, Barbara Trommer, Audrey Thurm, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 6, 2012
A novel de novo pathogenic mutation in the CACNA1A geneShinsuke Fujioka, Sruti Rayaprolu, Christina Sundal, et al.
NPJ Microgravity|October 14, 2024
Surface tension enables induced pluripotent stem cell culture in commercially available hardware during spaceflightMaedeh Mozneb, Madelyn Arzt, Pinar Mesci, et al.
Journal of Inherited Metabolic Disease|October 6, 2017
Erratum to: Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke projectAmel Karaa, Shamima Rahman, Anne Lombès, et al.
Journal of Inherited Metabolic Disease|March 18, 2017
Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke projectAmel Karaa, Shamima Rahman, Anne Lombès, et al.
Journal of Neuromuscular Diseases|March 13, 2023
Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG)Richard S Finkel, Basil T Darras, Jerry R Mendell, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2017
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine SocietySumit Parikh, Amy Goldstein, Amel Karaa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 8, 2017
Response to Newman et alSumit Parikh, Amy Goldstein, Amel Karaa, et al.
Nature Genetics|November 5, 2003
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)Koki Yamada, Caroline Andrews, Wai-Man Chan, et al.
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