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Austin Larson

Showing results (21-30 of 61) with videos related to

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Molecular Genetics and Metabolism|June 14, 2025
Differentiation of neonatal and infantile onset ECHS1 deficiency using SCEH enzyme activity and plasma acylcarnitine analysisOlivia D'Annibale, Whitney Phinney, Molly Crenshaw, et al.
Biorxiv : the Preprint Server for Biology|November 24, 2025
Splice-switching antisense oligonucleotides correct cryptic exon inclusion and restore SDCCAG8 protein in Bardet-Biedl SyndromeKelleen E McEntee, Bailey L McCurdy, Austin Larson, et al.
Prenatal Diagnosis|February 9, 2023
Piloting a multidisciplinary approach to improve outcomes of fetal whole exome sequencing: An overview of workflow and case exampleKestutis C Micke, Hannah M Elfman, Katherine A Fantauzzo, et al.
Molecular Genetics and Metabolism|January 13, 2026
L-fucose supplementation in a patient with global hypofucosylation and a mono-allelic variant in SLC35C1: Clinical improvement and assessment of biomarkersRodrigo T Starosta, Miao He, Sara Gracie, et al.
Neurology|February 20, 2025
Adult-onset Leigh Syndrome: An analysis of the North American Mitochondrial Disease Consortium Database (P3-11.017)Emanuele Barca, Adam Kroopnick, Alexander Houck, et al.
American Journal of Medical Genetics. Part A|November 6, 2024
Expanding the Molecular and Clinical Phenotype of Patients With De Novo Variants in KIF5C: A Six Patient Case SeriesSara Gracie, Prasannakumar Deshpande, Patrik Hollos, et al.
Molecular Genetics and Metabolism|March 23, 2025
Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomesSanne Verberkmoes, Gina L Mazza, Andrew C Edmondson, et al.
Molecular Genetics and Metabolism|November 12, 2017
New insights into the phenotype of FARS2 deficiencyElise Vantroys, Austin Larson, Marisa Friederich, et al.
Frontiers in Pediatrics|March 5, 2024
Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient settingLauren Thompson, Austin Larson, Lisa Salz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 15, 2023
A new neurodevelopmental disorder linked to heterozygous variants in UNC79Allan Bayat, Zhenjiang Liu, Sheng Luo, et al.
Pageof 7

Showing results (21-30 of 61) with videos related to

Sort By:
Pageof 7
Molecular Genetics and Metabolism|June 14, 2025
Differentiation of neonatal and infantile onset ECHS1 deficiency using SCEH enzyme activity and plasma acylcarnitine analysisOlivia D'Annibale, Whitney Phinney, Molly Crenshaw, et al.
Biorxiv : the Preprint Server for Biology|November 24, 2025
Splice-switching antisense oligonucleotides correct cryptic exon inclusion and restore SDCCAG8 protein in Bardet-Biedl SyndromeKelleen E McEntee, Bailey L McCurdy, Austin Larson, et al.
Prenatal Diagnosis|February 9, 2023
Piloting a multidisciplinary approach to improve outcomes of fetal whole exome sequencing: An overview of workflow and case exampleKestutis C Micke, Hannah M Elfman, Katherine A Fantauzzo, et al.
Molecular Genetics and Metabolism|January 13, 2026
L-fucose supplementation in a patient with global hypofucosylation and a mono-allelic variant in SLC35C1: Clinical improvement and assessment of biomarkersRodrigo T Starosta, Miao He, Sara Gracie, et al.
Neurology|February 20, 2025
Adult-onset Leigh Syndrome: An analysis of the North American Mitochondrial Disease Consortium Database (P3-11.017)Emanuele Barca, Adam Kroopnick, Alexander Houck, et al.
American Journal of Medical Genetics. Part A|November 6, 2024
Expanding the Molecular and Clinical Phenotype of Patients With De Novo Variants in KIF5C: A Six Patient Case SeriesSara Gracie, Prasannakumar Deshpande, Patrik Hollos, et al.
Molecular Genetics and Metabolism|March 23, 2025
Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomesSanne Verberkmoes, Gina L Mazza, Andrew C Edmondson, et al.
Molecular Genetics and Metabolism|November 12, 2017
New insights into the phenotype of FARS2 deficiencyElise Vantroys, Austin Larson, Marisa Friederich, et al.
Frontiers in Pediatrics|March 5, 2024
Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient settingLauren Thompson, Austin Larson, Lisa Salz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 15, 2023
A new neurodevelopmental disorder linked to heterozygous variants in UNC79Allan Bayat, Zhenjiang Liu, Sheng Luo, et al.
Pageof 7