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Devin Oglesbee

Showing results (41-50 of 99) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 18, 2025
The emerging role of metabolomics analysis in genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)Marcus J Miller, Maria Laura Duque Lasio, Adam D Kennedy, et al.
Archives of Pathology & Laboratory Medicine|January 3, 2012
Design and analytical validation of clinical DNA sequencing assaysGenevieve Pont-Kingdon, Friederike Gedge, Whitney Wooderchak-Donahue, et al.
Journal of Inherited Metabolic Disease|May 27, 2021
A new D-galactose treatment monitoring index for PGM1-CDGEster Perales-Clemente, Kristen Liedtke, April Studinski, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 1, 2025
Two-tiered newborn screening for Infantile Krabbe disease allows for timely treatment initiation and avoids false positive resultsPatricia L Hall, Amy L White, Dawn Peck, et al.
Frontiers in Genetics|August 14, 2024
<i>SMN1</i> c.5C>G (p.Ala2Gly) missense variant, a challenging molecular SMA diagnosis associated with mild disease, preserves SMN nuclear gems in patient-specific fibroblastsSara L Cook, Christian Stout, Lindsey Kirkeby, et al.
Molecular Genetics and Metabolism|December 8, 2014
Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophyColeman T Turgeon, Ann B Moser, Lars Mørkrid, et al.
JIMD Reports|March 17, 2021
Bilateral subdural hematomas and retinal hemorrhages mimicking nonaccidental trauma in a patient with D-2-hydroxyglutaric aciduriaEster Perales-Clemente, Angela L Hewitt, April L Studinski, et al.
Molecular Genetics and Metabolism|March 26, 2024
SLC6A8 creatine transporter deficiency can be detected by plasma creatine and creatinine concentrationsKaren Sanders, Dawn Peck, Gisele Bentz Pino, et al.
Clinical Chemistry|August 29, 2024
Development of a Multiplexed Sphingolipids Method for Diagnosis of Inborn Errors of Ceramide MetabolismSeul Kee Byeon, Jinyong Kim, Peter Jared Wegwerth, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 5, 2020
Risk categorization for oversight of laboratory-developed tests for inherited conditions: an updated position statement of the American College of Medical Genetics and Genomics (ACMG)Sarah T South, Michelle McClure, Caroline Astbury, et al.
Pageof 10

Showing results (41-50 of 99) with videos related to

Sort By:
Pageof 10
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 18, 2025
The emerging role of metabolomics analysis in genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)Marcus J Miller, Maria Laura Duque Lasio, Adam D Kennedy, et al.
Archives of Pathology & Laboratory Medicine|January 3, 2012
Design and analytical validation of clinical DNA sequencing assaysGenevieve Pont-Kingdon, Friederike Gedge, Whitney Wooderchak-Donahue, et al.
Journal of Inherited Metabolic Disease|May 27, 2021
A new D-galactose treatment monitoring index for PGM1-CDGEster Perales-Clemente, Kristen Liedtke, April Studinski, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 1, 2025
Two-tiered newborn screening for Infantile Krabbe disease allows for timely treatment initiation and avoids false positive resultsPatricia L Hall, Amy L White, Dawn Peck, et al.
Frontiers in Genetics|August 14, 2024
<i>SMN1</i> c.5C>G (p.Ala2Gly) missense variant, a challenging molecular SMA diagnosis associated with mild disease, preserves SMN nuclear gems in patient-specific fibroblastsSara L Cook, Christian Stout, Lindsey Kirkeby, et al.
Molecular Genetics and Metabolism|December 8, 2014
Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophyColeman T Turgeon, Ann B Moser, Lars Mørkrid, et al.
JIMD Reports|March 17, 2021
Bilateral subdural hematomas and retinal hemorrhages mimicking nonaccidental trauma in a patient with D-2-hydroxyglutaric aciduriaEster Perales-Clemente, Angela L Hewitt, April L Studinski, et al.
Molecular Genetics and Metabolism|March 26, 2024
SLC6A8 creatine transporter deficiency can be detected by plasma creatine and creatinine concentrationsKaren Sanders, Dawn Peck, Gisele Bentz Pino, et al.
Clinical Chemistry|August 29, 2024
Development of a Multiplexed Sphingolipids Method for Diagnosis of Inborn Errors of Ceramide MetabolismSeul Kee Byeon, Jinyong Kim, Peter Jared Wegwerth, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 5, 2020
Risk categorization for oversight of laboratory-developed tests for inherited conditions: an updated position statement of the American College of Medical Genetics and Genomics (ACMG)Sarah T South, Michelle McClure, Caroline Astbury, et al.
Pageof 10