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David P Dimmock

Showing results (11-20 of 38) with videos related to

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Cold Spring Harbor Molecular Case Studies|March 18, 2018
The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin-Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infectionsNathaly M Sweeney, Shareef A Nahas, Shimul Chowdhury, et al.
Children (Basel, Switzerland)|March 25, 2022
Healthcare Professionals' Attitudes toward Rapid Whole Genome Sequencing in Pediatric Acute CareLinda S Franck, Andrea Scheurer-Monaghan, Caleb P Bupp, et al.
Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society|October 1, 2008
Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiencyDavid P Dimmock, J Kay Dunn, Annette Feigenbaum, et al.
American Journal of Human Genetics|November 6, 2020
A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill InfantsJulie A Cakici, David P Dimmock, Sara A Caylor, et al.
Free Radical Biology & Medicine|January 17, 2016
Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndromeBrian Bennett, Daniel Helbling, Hui Meng, et al.
Journal of Neurodevelopmental Disorders|October 3, 2013
Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speechElizabeth A Worthey, Gordana Raca, Jennifer J Laffin, et al.
Molecular Genetics & Genomic Medicine|June 2, 2021
Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndromeJennifer Friedman, Lynne M Bird, Richard Haas, et al.
Cell Reports|November 8, 2018
A Screen Using iPSC-Derived Hepatocytes Reveals NAD<sup>+</sup> as a Potential Treatment for mtDNA Depletion SyndromeRan Jing, James L Corbett, Jun Cai, et al.
American Journal of Medical Genetics. Part A|October 18, 2008
The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemiaDavid P Dimmock, Pamela Trapane, Annette Feigenbaum, et al.
Molecular Genetics and Metabolism|March 8, 2018
Acute liver failure in neonates with undiagnosed hereditary fructose intolerance due to exposure from widely available infant formulasHong Li, Heather M Byers, Alicia Diaz-Kuan, et al.
Pageof 4

Showing results (11-20 of 38) with videos related to

Sort By:
Pageof 4
Cold Spring Harbor Molecular Case Studies|March 18, 2018
The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin-Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infectionsNathaly M Sweeney, Shareef A Nahas, Shimul Chowdhury, et al.
Children (Basel, Switzerland)|March 25, 2022
Healthcare Professionals' Attitudes toward Rapid Whole Genome Sequencing in Pediatric Acute CareLinda S Franck, Andrea Scheurer-Monaghan, Caleb P Bupp, et al.
Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society|October 1, 2008
Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiencyDavid P Dimmock, J Kay Dunn, Annette Feigenbaum, et al.
American Journal of Human Genetics|November 6, 2020
A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill InfantsJulie A Cakici, David P Dimmock, Sara A Caylor, et al.
Free Radical Biology & Medicine|January 17, 2016
Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndromeBrian Bennett, Daniel Helbling, Hui Meng, et al.
Journal of Neurodevelopmental Disorders|October 3, 2013
Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speechElizabeth A Worthey, Gordana Raca, Jennifer J Laffin, et al.
Molecular Genetics & Genomic Medicine|June 2, 2021
Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndromeJennifer Friedman, Lynne M Bird, Richard Haas, et al.
Cell Reports|November 8, 2018
A Screen Using iPSC-Derived Hepatocytes Reveals NAD<sup>+</sup> as a Potential Treatment for mtDNA Depletion SyndromeRan Jing, James L Corbett, Jun Cai, et al.
American Journal of Medical Genetics. Part A|October 18, 2008
The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemiaDavid P Dimmock, Pamela Trapane, Annette Feigenbaum, et al.
Molecular Genetics and Metabolism|March 8, 2018
Acute liver failure in neonates with undiagnosed hereditary fructose intolerance due to exposure from widely available infant formulasHong Li, Heather M Byers, Alicia Diaz-Kuan, et al.
Pageof 4