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Austin Larson

Showing results (31-40 of 61) with videos related to

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Journal of Patient-Reported Outcomes|October 27, 2025
Signs, symptoms, and health-related quality of life in MELAS: measuring what's important from the patient and clinician perspectivesPaolo Medrano, Benjamin Banderas, Marisa Brimmer, et al.
Human Molecular Genetics|March 2, 2022
De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in DrosophilaHyung-Lok Chung, Patrick Rump, Di Lu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2018
Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrumLisa T Emrick, Jill A Rosenfeld, Seema R Lalani, et al.
Cell Reports. Medicine|May 31, 2023
Tracer metabolomics reveals the role of aldose reductase in glycosylationSilvia Radenkovic, Anna N Ligezka, Sneha S Mokashi, et al.
Genes|January 21, 2022
Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical ScoringDóra Nagy, Sarah Verheyen, Kristen M Wigby, et al.
American Journal of Medical Genetics. Part A|January 18, 2023
Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencingKristen Wigby, Monia Hammer, Mari Tokita, et al.
JCI Insight|April 8, 2024
A complement C4-derived glycopeptide is a biomarker for PMM2-CDGKishore Garapati, Rohit Budhraja, Mayank Saraswat, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 29, 2025
Efficacy, safety, and tolerability of chenodeoxycholic acid (CDCA) in adult patients with cerebrotendinous xanthomatosis (RESTORE): A randomized withdrawal, double-blind, placebo-controlled, crossover phase-3 studyYaz Y Kisanuki, Paulo R Nobrega, Ryan Himes, et al.
Plos Genetics|March 29, 2014
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndromeMichael F Wangler, Claudia Gonzaga-Jauregui, Tomasz Gambin, et al.
Annals of Neurology|October 15, 2021
Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic ImplicationsAnna N Ligezka, Silvia Radenkovic, Mayank Saraswat, et al.
Pageof 7

Showing results (31-40 of 61) with videos related to

Sort By:
Pageof 7
Journal of Patient-Reported Outcomes|October 27, 2025
Signs, symptoms, and health-related quality of life in MELAS: measuring what's important from the patient and clinician perspectivesPaolo Medrano, Benjamin Banderas, Marisa Brimmer, et al.
Human Molecular Genetics|March 2, 2022
De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in DrosophilaHyung-Lok Chung, Patrick Rump, Di Lu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2018
Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrumLisa T Emrick, Jill A Rosenfeld, Seema R Lalani, et al.
Cell Reports. Medicine|May 31, 2023
Tracer metabolomics reveals the role of aldose reductase in glycosylationSilvia Radenkovic, Anna N Ligezka, Sneha S Mokashi, et al.
Genes|January 21, 2022
Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical ScoringDóra Nagy, Sarah Verheyen, Kristen M Wigby, et al.
American Journal of Medical Genetics. Part A|January 18, 2023
Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencingKristen Wigby, Monia Hammer, Mari Tokita, et al.
JCI Insight|April 8, 2024
A complement C4-derived glycopeptide is a biomarker for PMM2-CDGKishore Garapati, Rohit Budhraja, Mayank Saraswat, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 29, 2025
Efficacy, safety, and tolerability of chenodeoxycholic acid (CDCA) in adult patients with cerebrotendinous xanthomatosis (RESTORE): A randomized withdrawal, double-blind, placebo-controlled, crossover phase-3 studyYaz Y Kisanuki, Paulo R Nobrega, Ryan Himes, et al.
Plos Genetics|March 29, 2014
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndromeMichael F Wangler, Claudia Gonzaga-Jauregui, Tomasz Gambin, et al.
Annals of Neurology|October 15, 2021
Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic ImplicationsAnna N Ligezka, Silvia Radenkovic, Mayank Saraswat, et al.
Pageof 7