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Devin Oglesbee

Showing results (61-70 of 99) with videos related to

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Neurology. Genetics|December 25, 2024
Clinical Heterogeneity of Neuronal Ceroid Lipofuscinosis Type 13: A Case Report and Systematic Review of LiteratureNikhil B Ghayal, Shanu F Roemer, Philip W Tipton, et al.
Journal of Inherited Metabolic Disease|September 26, 2025
Screening and Diagnosis of Lysosomal Disorders: Biochemical and Genomic ApproachesMatthew J Schultz, Patricia L Hall, Gisele Bentz Pino, et al.
Molecular Genetics and Metabolism|August 31, 2024
Sensitivity of transferrin isoform analysis for PMM2-CDGPatrica L Hall, Kris Liedke, Coleman Turgeon, et al.
Molecular Genetics and Metabolism Reports|July 18, 2024
Pre-analytic decrease of phenylalanine in plasma of patients with phenylketonuria treated with pegvaliaseColeman Turgeon, Kari Casas, Ryan Flanagan, et al.
The EMBO Journal|July 21, 2016
Natural underlying mtDNA heteroplasmy as a potential source of intra-person hiPSC variabilityEster Perales-Clemente, Alexandra N Cook, Jared M Evans, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2025
Rethinking the pathogenicity of intragenic DMD duplications detected by carrier screening: High prevalence of nontandem duplications revealed by long-read sequencingQiliang Ding, Jagadheshwar Balan, Noemi Vidal-Folch, et al.
Molecular Genetics and Metabolism|November 1, 2025
Clinical utility of untargeted urine oligosaccharide screeningGisele Bentz Pino, Marie A Quade, Matthew J Schultz, et al.
Neuromuscular Disorders : NMD|December 25, 2025
Clinically discordant siblings with spinal muscular atrophy: insights from their patient-specific iPSC-derived motor neurons and literature reviewSara L Cook, Tyller Mensa, Henry Noma, et al.
Journal of Inherited Metabolic Disease|March 13, 2015
Measurement of psychosine in dried blood spots--a possible improvement to newborn screening programs for Krabbe diseaseColeman T Turgeon, Joseph J Orsini, Karen A Sanders, et al.
Molecular Genetics and Metabolism|November 23, 2019
Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduriaGisele Pino, Erin Conboy, Silvia Tortorelli, et al.
Pageof 10

Showing results (61-70 of 99) with videos related to

Sort By:
Pageof 10
Neurology. Genetics|December 25, 2024
Clinical Heterogeneity of Neuronal Ceroid Lipofuscinosis Type 13: A Case Report and Systematic Review of LiteratureNikhil B Ghayal, Shanu F Roemer, Philip W Tipton, et al.
Journal of Inherited Metabolic Disease|September 26, 2025
Screening and Diagnosis of Lysosomal Disorders: Biochemical and Genomic ApproachesMatthew J Schultz, Patricia L Hall, Gisele Bentz Pino, et al.
Molecular Genetics and Metabolism|August 31, 2024
Sensitivity of transferrin isoform analysis for PMM2-CDGPatrica L Hall, Kris Liedke, Coleman Turgeon, et al.
Molecular Genetics and Metabolism Reports|July 18, 2024
Pre-analytic decrease of phenylalanine in plasma of patients with phenylketonuria treated with pegvaliaseColeman Turgeon, Kari Casas, Ryan Flanagan, et al.
The EMBO Journal|July 21, 2016
Natural underlying mtDNA heteroplasmy as a potential source of intra-person hiPSC variabilityEster Perales-Clemente, Alexandra N Cook, Jared M Evans, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2025
Rethinking the pathogenicity of intragenic DMD duplications detected by carrier screening: High prevalence of nontandem duplications revealed by long-read sequencingQiliang Ding, Jagadheshwar Balan, Noemi Vidal-Folch, et al.
Molecular Genetics and Metabolism|November 1, 2025
Clinical utility of untargeted urine oligosaccharide screeningGisele Bentz Pino, Marie A Quade, Matthew J Schultz, et al.
Neuromuscular Disorders : NMD|December 25, 2025
Clinically discordant siblings with spinal muscular atrophy: insights from their patient-specific iPSC-derived motor neurons and literature reviewSara L Cook, Tyller Mensa, Henry Noma, et al.
Journal of Inherited Metabolic Disease|March 13, 2015
Measurement of psychosine in dried blood spots--a possible improvement to newborn screening programs for Krabbe diseaseColeman T Turgeon, Joseph J Orsini, Karen A Sanders, et al.
Molecular Genetics and Metabolism|November 23, 2019
Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduriaGisele Pino, Erin Conboy, Silvia Tortorelli, et al.
Pageof 10