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Jerry Vockley

Showing results (111-120 of 293) with videos related to

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Molecular Genetics and Metabolism|July 31, 2019
Complex patterns of inheritance, including synergistic heterozygosity, in inborn errors of metabolism: Implications for precision medicine driven diagnosis and treatmentJerry Vockley, Steven F Dobrowolski, Georgianne L Arnold, et al.
The Journal of Biological Chemistry|January 29, 2002
Crystal structure of rat short chain acyl-CoA dehydrogenase complexed with acetoacetyl-CoA: comparison with other acyl-CoA dehydrogenasesKevin P Battaile, JoAnn Molin-Case, Rosemary Paschke, et al.
Molecular Genetics and Metabolism|May 21, 2015
Altered DNA methylation in PAH deficient phenylketonuriaSteven F Dobrowolski, James Lyons-Weiler, Kayla Spridik, et al.
Orphanet Journal of Rare Diseases|January 27, 2012
Clinical and neurocognitive outcome in symptomatic isovaleric acidemiaSarah C Grünert, Udo Wendel, Martin Lindner, et al.
Molecular Genetics and Metabolism|April 2, 2014
Complex changes in the liver mitochondrial proteome of short chain acyl-CoA dehydrogenase deficient miceWei Wang, Al-Walid Mohsen, Guy Uechi, et al.
Plos One|December 10, 2020
ACAD10 protein expression and Neurobehavioral assessment of Acad10-deficient miceKaitlyn Bloom, Anuradha Karunanidhi, Kimimasa Tobita, et al.
Therapeutic Innovation & Regulatory Science|May 20, 2021
The Use of External Controls in FDA Regulatory Decision MakingMahta Jahanshahi, Keith Gregg, Gillian Davis, et al.
Molecular Genetics and Metabolism|September 18, 2021
Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysisOlivia M D'Annibale, Erik A Koppes, Ahmad N Alodaib, et al.
The Journal of Gene Medicine|August 23, 2008
Recombinant adeno-associated virus-mediated gene delivery of long chain acyl coenzyme A dehydrogenase (LCAD) into LCAD-deficient miceStuart G Beattie, Eric Goetzman, Qiuishi Tang, et al.
Molecular Genetics and Metabolism|March 11, 2020
Clinical, biochemical, mitochondrial, and metabolomic aspects of methylmalonate semialdehyde dehydrogenase deficiency: Report of a fifth caseSteven F Dobrowolski, Ahmad Alodaib, Anuradha Karunanidhi, et al.
Pageof 30

Showing results (111-120 of 293) with videos related to

Sort By:
Pageof 30
Molecular Genetics and Metabolism|July 31, 2019
Complex patterns of inheritance, including synergistic heterozygosity, in inborn errors of metabolism: Implications for precision medicine driven diagnosis and treatmentJerry Vockley, Steven F Dobrowolski, Georgianne L Arnold, et al.
The Journal of Biological Chemistry|January 29, 2002
Crystal structure of rat short chain acyl-CoA dehydrogenase complexed with acetoacetyl-CoA: comparison with other acyl-CoA dehydrogenasesKevin P Battaile, JoAnn Molin-Case, Rosemary Paschke, et al.
Molecular Genetics and Metabolism|May 21, 2015
Altered DNA methylation in PAH deficient phenylketonuriaSteven F Dobrowolski, James Lyons-Weiler, Kayla Spridik, et al.
Orphanet Journal of Rare Diseases|January 27, 2012
Clinical and neurocognitive outcome in symptomatic isovaleric acidemiaSarah C Grünert, Udo Wendel, Martin Lindner, et al.
Molecular Genetics and Metabolism|April 2, 2014
Complex changes in the liver mitochondrial proteome of short chain acyl-CoA dehydrogenase deficient miceWei Wang, Al-Walid Mohsen, Guy Uechi, et al.
Plos One|December 10, 2020
ACAD10 protein expression and Neurobehavioral assessment of Acad10-deficient miceKaitlyn Bloom, Anuradha Karunanidhi, Kimimasa Tobita, et al.
Therapeutic Innovation & Regulatory Science|May 20, 2021
The Use of External Controls in FDA Regulatory Decision MakingMahta Jahanshahi, Keith Gregg, Gillian Davis, et al.
Molecular Genetics and Metabolism|September 18, 2021
Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysisOlivia M D'Annibale, Erik A Koppes, Ahmad N Alodaib, et al.
The Journal of Gene Medicine|August 23, 2008
Recombinant adeno-associated virus-mediated gene delivery of long chain acyl coenzyme A dehydrogenase (LCAD) into LCAD-deficient miceStuart G Beattie, Eric Goetzman, Qiuishi Tang, et al.
Molecular Genetics and Metabolism|March 11, 2020
Clinical, biochemical, mitochondrial, and metabolomic aspects of methylmalonate semialdehyde dehydrogenase deficiency: Report of a fifth caseSteven F Dobrowolski, Ahmad Alodaib, Anuradha Karunanidhi, et al.
Pageof 30