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Cary Harding

Showing results (1-10 of 13) with videos related to

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The Journal of Pediatrics|January 15, 2004
Hand it to the skin in Costello syndromeAngela Lin, Cary Harding, Michael Silberbach
Molecular Genetics and Metabolism|May 25, 2026
Letter to the editor: Newborn screening for low blood citrulline leads to diagnosis of ornithine aminotransferase deficiencyMaxwell Summerlin, Cary Harding, Rodrigo T Starosta, et al.
Nature Reviews. Disease Primers|May 21, 2021
PhenylketonuriaFrancjan J van Spronsen, Nenad Blau, Cary Harding, et al.
American Journal of Medical Genetics. Part A|June 29, 2017
Next generation deep sequencing corrects diagnostic pitfalls of traditional molecular approach in a patient with prenatal onset of Pompe diseaseAnne Chun-Hui Tsai, Yu-Wen Hung, Cary Harding, et al.
Molecular Genetics and Metabolism|August 24, 2019
Long-term comparative effectiveness of pegvaliase versus standard of care comparators in adults with phenylketonuriaRoberto Zori, Kirsten Ahring, Barbara Burton, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 9, 2023
Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)Loren D M Peña, Lindsay C Burrage, Gregory M Enns, et al.
Molecular Genetics and Metabolism|January 23, 2009
A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiencyGeorgianne L Arnold, Johan Van Hove, Debra Freedenberg, et al.
Molecular Genetics and Metabolism|December 25, 2007
A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiencyGeorgianne L Arnold, Dwight D Koeberl, Dietrich Matern, et al.
Nature Metabolism|September 28, 2023
Efficacy and safety of a synthetic biotic for treatment of phenylketonuria: a phase 2 clinical trialJerry Vockley, Neal Sondheimer, Marja Puurunen, et al.
Molecular Genetics and Metabolism|August 1, 2024
Neurocognitive assessment platform for clinical trials in PKU: White paper developed by the NPKUA neurocognitive workgroupSusan E Waisbren, Shawn E Christ, Deborah A Bilder, et al.
Pageof 2

Showing results (1-10 of 13) with videos related to

Sort By:
Pageof 2
The Journal of Pediatrics|January 15, 2004
Hand it to the skin in Costello syndromeAngela Lin, Cary Harding, Michael Silberbach
Molecular Genetics and Metabolism|May 25, 2026
Letter to the editor: Newborn screening for low blood citrulline leads to diagnosis of ornithine aminotransferase deficiencyMaxwell Summerlin, Cary Harding, Rodrigo T Starosta, et al.
Nature Reviews. Disease Primers|May 21, 2021
PhenylketonuriaFrancjan J van Spronsen, Nenad Blau, Cary Harding, et al.
American Journal of Medical Genetics. Part A|June 29, 2017
Next generation deep sequencing corrects diagnostic pitfalls of traditional molecular approach in a patient with prenatal onset of Pompe diseaseAnne Chun-Hui Tsai, Yu-Wen Hung, Cary Harding, et al.
Molecular Genetics and Metabolism|August 24, 2019
Long-term comparative effectiveness of pegvaliase versus standard of care comparators in adults with phenylketonuriaRoberto Zori, Kirsten Ahring, Barbara Burton, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 9, 2023
Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)Loren D M Peña, Lindsay C Burrage, Gregory M Enns, et al.
Molecular Genetics and Metabolism|January 23, 2009
A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiencyGeorgianne L Arnold, Johan Van Hove, Debra Freedenberg, et al.
Molecular Genetics and Metabolism|December 25, 2007
A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiencyGeorgianne L Arnold, Dwight D Koeberl, Dietrich Matern, et al.
Nature Metabolism|September 28, 2023
Efficacy and safety of a synthetic biotic for treatment of phenylketonuria: a phase 2 clinical trialJerry Vockley, Neal Sondheimer, Marja Puurunen, et al.
Molecular Genetics and Metabolism|August 1, 2024
Neurocognitive assessment platform for clinical trials in PKU: White paper developed by the NPKUA neurocognitive workgroupSusan E Waisbren, Shawn E Christ, Deborah A Bilder, et al.
Pageof 2