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Austin Larson

Showing results (11-20 of 61) with videos related to

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JIMD Reports|November 19, 2016
Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual DisabilityAustin Larson, James D Weisfeld-Adams, Tim A Benke, et al.
Pediatric Dermatology|March 9, 2026
Neonatal KLHL24-Associated Epidermolysis Bullosa Simplex: Clinical Presentation and Genetic Confirmation of a Rare Skin Fragility SyndromeSofia Guelfand Warnken, Jon Kibbie, Austin Larson, et al.
Advances in Therapy|December 19, 2023
Living with Cerebrotendinous Xanthomatosis: Patient, Caregiver, and Expert PerspectivesRobert D Steiner, Andrea DeBarber, Austin Larson, et al.
Molecular Genetics and Metabolism|February 9, 2025
Causes of mortality in the congenital disorders of glycosylationHana Alharbi, Seishu Horikoshi, Sabrina Malone Jenkins, et al.
Molecular Genetics and Metabolism|August 30, 2023
Defining the phenotype of PGAP3-congenital disorder of glycosylation; a review of 65 casesRuqaiah Altassan, Michael M Allers, Diederik De Graef, et al.
Journal of Clinical Lipidology|April 18, 2024
Genetically and clinically confirmed atypical cerebrotendinous xanthomatosis with normal cholestanol and marked elevations of bile acid precursors and bile alcoholsAndrea E DeBarber, Ernst J Schaefer, Jenny Do, et al.
American Journal of Medical Genetics. Part A|February 28, 2022
De novo loss-of-function variant in PTDSS1 is associated with developmental delaySara Gracie, Nivedita Sengupta, Carlos Ferreira, et al.
Cold Spring Harbor Molecular Case Studies|May 22, 2021
Neurodevelopmental phenotypes in individuals with pathogenic variants in <i>CHAMP1</i>Madison Garrity, Haluk Kavus, Marta Rojas-Vasquez, et al.
American Journal of Medical Genetics. Part A|January 3, 2024
Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon-level Array, and RNA sequencingJian Zhao, Nicola Longo, Robert G Lewis, et al.
Molecular Genetics and Metabolism|June 25, 2024
Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluationRoni Zemet, Kyle D Hope, Andrew C Edmondson, et al.
Pageof 7

Showing results (11-20 of 61) with videos related to

Sort By:
Pageof 7
JIMD Reports|November 19, 2016
Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual DisabilityAustin Larson, James D Weisfeld-Adams, Tim A Benke, et al.
Pediatric Dermatology|March 9, 2026
Neonatal KLHL24-Associated Epidermolysis Bullosa Simplex: Clinical Presentation and Genetic Confirmation of a Rare Skin Fragility SyndromeSofia Guelfand Warnken, Jon Kibbie, Austin Larson, et al.
Advances in Therapy|December 19, 2023
Living with Cerebrotendinous Xanthomatosis: Patient, Caregiver, and Expert PerspectivesRobert D Steiner, Andrea DeBarber, Austin Larson, et al.
Molecular Genetics and Metabolism|February 9, 2025
Causes of mortality in the congenital disorders of glycosylationHana Alharbi, Seishu Horikoshi, Sabrina Malone Jenkins, et al.
Molecular Genetics and Metabolism|August 30, 2023
Defining the phenotype of PGAP3-congenital disorder of glycosylation; a review of 65 casesRuqaiah Altassan, Michael M Allers, Diederik De Graef, et al.
Journal of Clinical Lipidology|April 18, 2024
Genetically and clinically confirmed atypical cerebrotendinous xanthomatosis with normal cholestanol and marked elevations of bile acid precursors and bile alcoholsAndrea E DeBarber, Ernst J Schaefer, Jenny Do, et al.
American Journal of Medical Genetics. Part A|February 28, 2022
De novo loss-of-function variant in PTDSS1 is associated with developmental delaySara Gracie, Nivedita Sengupta, Carlos Ferreira, et al.
Cold Spring Harbor Molecular Case Studies|May 22, 2021
Neurodevelopmental phenotypes in individuals with pathogenic variants in <i>CHAMP1</i>Madison Garrity, Haluk Kavus, Marta Rojas-Vasquez, et al.
American Journal of Medical Genetics. Part A|January 3, 2024
Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon-level Array, and RNA sequencingJian Zhao, Nicola Longo, Robert G Lewis, et al.
Molecular Genetics and Metabolism|June 25, 2024
Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluationRoni Zemet, Kyle D Hope, Andrew C Edmondson, et al.
Pageof 7