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Devin Oglesbee

Showing results (71-80 of 99) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 17, 2007
Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiencyDevin Oglesbee, Miao He, Nilanjana Majumder, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|February 5, 2021
Clinical characterization of primary hyperoxaluria type 3 in comparison with types 1 and 2Prince Singh, Jason K Viehman, Ramila A Mehta, et al.
Plos One|October 3, 2019
A tailored approach to fusion transcript identification increases diagnosis of rare inherited diseaseGavin R Oliver, Xiaojia Tang, Laura E Schultz-Rogers, et al.
Molecular Genetics and Metabolism Reports|October 22, 2024
Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal recessive conditionKimberly M Ezell, Yutaka Furuta, Devin Oglesbee, et al.
JIMD Reports|July 14, 2021
The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnosesAdam J Guenzel, Patricia L Hall, Anna I Scott, et al.
International Journal of Neonatal Screening|April 24, 2026
<i>COASY</i>-Associated Disorders as a Differential Diagnosis in Cases with Newborn Screening Results Suggestive of CPT-IZinandré Stander, Amy L White, Matthew Lynch, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 14, 2025
Reduction of false-positive results with biochemical second-tier testing for newborn screening of Pompe diseaseIbrahim T Khoja, Dawn S Peck, Dimitar K Gavrilov, et al.
The Journal of Pediatrics|April 17, 2010
Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometrySilvia Tortorelli, Coleman T Turgeon, James S Lim, et al.
HGG Advances|January 20, 2022
An activating germline <i>IDH1</i> variant associated with a tumor entity characterized by unilateral and bilateral chondrosarcoma of the mastoidPatrick R Blackburn, Jodi M Carter, Devin Oglesbee, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 10, 2017
Precision newborn screening for lysosomal disordersMelissa M Minter Baerg, Stephanie D Stoway, Jeremy Hart, et al.
Pageof 10

Showing results (71-80 of 99) with videos related to

Sort By:
Pageof 10
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 17, 2007
Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiencyDevin Oglesbee, Miao He, Nilanjana Majumder, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|February 5, 2021
Clinical characterization of primary hyperoxaluria type 3 in comparison with types 1 and 2Prince Singh, Jason K Viehman, Ramila A Mehta, et al.
Plos One|October 3, 2019
A tailored approach to fusion transcript identification increases diagnosis of rare inherited diseaseGavin R Oliver, Xiaojia Tang, Laura E Schultz-Rogers, et al.
Molecular Genetics and Metabolism Reports|October 22, 2024
Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal recessive conditionKimberly M Ezell, Yutaka Furuta, Devin Oglesbee, et al.
JIMD Reports|July 14, 2021
The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnosesAdam J Guenzel, Patricia L Hall, Anna I Scott, et al.
International Journal of Neonatal Screening|April 24, 2026
<i>COASY</i>-Associated Disorders as a Differential Diagnosis in Cases with Newborn Screening Results Suggestive of CPT-IZinandré Stander, Amy L White, Matthew Lynch, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 14, 2025
Reduction of false-positive results with biochemical second-tier testing for newborn screening of Pompe diseaseIbrahim T Khoja, Dawn S Peck, Dimitar K Gavrilov, et al.
The Journal of Pediatrics|April 17, 2010
Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometrySilvia Tortorelli, Coleman T Turgeon, James S Lim, et al.
HGG Advances|January 20, 2022
An activating germline <i>IDH1</i> variant associated with a tumor entity characterized by unilateral and bilateral chondrosarcoma of the mastoidPatrick R Blackburn, Jodi M Carter, Devin Oglesbee, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 10, 2017
Precision newborn screening for lysosomal disordersMelissa M Minter Baerg, Stephanie D Stoway, Jeremy Hart, et al.
Pageof 10