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David Dimmock

Showing results (11-20 of 101) with videos related to

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The Journal of Pediatrics|January 16, 2023
Novel Approach to Improve the Identification of the Bleeding Phenotype in Noonan Syndrome and Related RASopathiesLeah Bruno, Jerica Lenberg, Dzung Le, et al.
Human Gene Therapy|October 27, 2010
Correction of hyperbilirubinemia in gunn rats using clinically relevant low doses of helper-dependent adenoviral vectorsDavid Dimmock, Nicola Brunetti-Pierri, Donna J Palmer, et al.
BMC Neurology|November 24, 2017
The humanistic burden of Pompe disease: are there still unmet needs? A systematic reviewBenedikt Schoser, Deborah A Bilder, David Dimmock, et al.
Neuromuscular Disorders : NMD|September 9, 2009
Progressive myofiber loss with extensive fibro-fatty replacement in a child with mitochondrial DNA depletion syndrome and novel thymidine kinase 2 gene mutationsJames Collins, Kevin E Bove, David Dimmock, et al.
The Journal of Pediatrics|May 23, 2021
Implementing Rapid Whole-Genome Sequencing in Critical Care: A Qualitative Study of Facilitators and Barriers to New Technology AdoptionLinda S Franck, Rebecca M Kriz, Seema Rego, et al.
Journal of General Internal Medicine|November 1, 2019
Results and Lessons of a Pilot Study of Cascade Screening for Familial Hypercholesterolemia in US Primary Care PracticesJoan Neuner, David Dimmock, Alison La Pean Kirschner, et al.
Scientific Reports|July 5, 2020
Diagnosis of cytomegalovirus infection from clinical whole genome sequencingNanda Ramchandar, Yan Ding, Lauge Farnaes, et al.
Prenatal Diagnosis|February 10, 2022
Retrospective identification of prenatal fetal anomalies associated with diagnostic neonatal genomic sequencing resultsKathy Zhang-Rutledge, Mallory Owen, Nathaly M Sweeney, et al.
Cold Spring Harbor Molecular Case Studies|November 9, 2018
Novel Factor XIII variant identified through whole-genome sequencing in a child with intracranial hemorrhageBenjamin Briggs, Kiely N James, Shimul Chowdhury, et al.
Plos One|January 26, 2023
The Genomic landscape of short tandem repeats across multiple ancestriesPrashanth Vijayaraghavan, Sergey Batalov, Yan Ding, et al.
Pageof 11

Showing results (11-20 of 101) with videos related to

Sort By:
Pageof 11
The Journal of Pediatrics|January 16, 2023
Novel Approach to Improve the Identification of the Bleeding Phenotype in Noonan Syndrome and Related RASopathiesLeah Bruno, Jerica Lenberg, Dzung Le, et al.
Human Gene Therapy|October 27, 2010
Correction of hyperbilirubinemia in gunn rats using clinically relevant low doses of helper-dependent adenoviral vectorsDavid Dimmock, Nicola Brunetti-Pierri, Donna J Palmer, et al.
BMC Neurology|November 24, 2017
The humanistic burden of Pompe disease: are there still unmet needs? A systematic reviewBenedikt Schoser, Deborah A Bilder, David Dimmock, et al.
Neuromuscular Disorders : NMD|September 9, 2009
Progressive myofiber loss with extensive fibro-fatty replacement in a child with mitochondrial DNA depletion syndrome and novel thymidine kinase 2 gene mutationsJames Collins, Kevin E Bove, David Dimmock, et al.
The Journal of Pediatrics|May 23, 2021
Implementing Rapid Whole-Genome Sequencing in Critical Care: A Qualitative Study of Facilitators and Barriers to New Technology AdoptionLinda S Franck, Rebecca M Kriz, Seema Rego, et al.
Journal of General Internal Medicine|November 1, 2019
Results and Lessons of a Pilot Study of Cascade Screening for Familial Hypercholesterolemia in US Primary Care PracticesJoan Neuner, David Dimmock, Alison La Pean Kirschner, et al.
Scientific Reports|July 5, 2020
Diagnosis of cytomegalovirus infection from clinical whole genome sequencingNanda Ramchandar, Yan Ding, Lauge Farnaes, et al.
Prenatal Diagnosis|February 10, 2022
Retrospective identification of prenatal fetal anomalies associated with diagnostic neonatal genomic sequencing resultsKathy Zhang-Rutledge, Mallory Owen, Nathaly M Sweeney, et al.
Cold Spring Harbor Molecular Case Studies|November 9, 2018
Novel Factor XIII variant identified through whole-genome sequencing in a child with intracranial hemorrhageBenjamin Briggs, Kiely N James, Shimul Chowdhury, et al.
Plos One|January 26, 2023
The Genomic landscape of short tandem repeats across multiple ancestriesPrashanth Vijayaraghavan, Sergey Batalov, Yan Ding, et al.
Pageof 11