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Austin Larson

Showing results (41-50 of 61) with videos related to

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Journal of Inherited Metabolic Disease|April 2, 2020
Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementationPiming Zhao, Isaac D Liu, Jeffrey B Hodgin, et al.
American Journal of Human Genetics|June 4, 2019
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal AcidificationElena-Raluca Nicoli, Mary R Weston, Mary Hackbarth, et al.
American Journal of Human Genetics|March 27, 2018
Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early ChildhoodF-Nora Vögtle, Björn Brändl, Austin Larson, et al.
Communications Biology|February 14, 2026
Mitochondrial energetic failure underlies FLVCR1-related sensory neuropathyFrancesca Bertino, Diletta Isabella Zanin Venturini, Eleonora Grasso, et al.
American Journal of Medical Genetics. Part A|February 8, 2020
De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotypeIlana Chilton, Volkan Okur, Giuseppina Vitiello, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 4, 2021
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotypePaolo Zanoni, Katharina Steindl, Deepanwita Sengupta, et al.
Neurology. Genetics|April 28, 2020
Mitochondrial diseases in North America: An analysis of the NAMDC RegistryEmanuele Barca, Yuelin Long, Victoria Cooley, et al.
Human Mutation|November 27, 2019
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathyNurit Assia Batzir, Pranjali Kishor Bhagwat, Austin Larson, et al.
Clinical Genetics|April 26, 2022
Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort studyGuillaume Jouret, Solveig Heide, Arthur Sorlin, et al.
Nature Genetics|July 21, 2022
Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosisRicardo Moreno Traspas, Tze Shin Teoh, Pui-Mun Wong, et al.
Pageof 7

Showing results (41-50 of 61) with videos related to

Sort By:
Pageof 7
Journal of Inherited Metabolic Disease|April 2, 2020
Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementationPiming Zhao, Isaac D Liu, Jeffrey B Hodgin, et al.
American Journal of Human Genetics|June 4, 2019
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal AcidificationElena-Raluca Nicoli, Mary R Weston, Mary Hackbarth, et al.
American Journal of Human Genetics|March 27, 2018
Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early ChildhoodF-Nora Vögtle, Björn Brändl, Austin Larson, et al.
Communications Biology|February 14, 2026
Mitochondrial energetic failure underlies FLVCR1-related sensory neuropathyFrancesca Bertino, Diletta Isabella Zanin Venturini, Eleonora Grasso, et al.
American Journal of Medical Genetics. Part A|February 8, 2020
De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotypeIlana Chilton, Volkan Okur, Giuseppina Vitiello, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 4, 2021
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotypePaolo Zanoni, Katharina Steindl, Deepanwita Sengupta, et al.
Neurology. Genetics|April 28, 2020
Mitochondrial diseases in North America: An analysis of the NAMDC RegistryEmanuele Barca, Yuelin Long, Victoria Cooley, et al.
Human Mutation|November 27, 2019
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathyNurit Assia Batzir, Pranjali Kishor Bhagwat, Austin Larson, et al.
Clinical Genetics|April 26, 2022
Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort studyGuillaume Jouret, Solveig Heide, Arthur Sorlin, et al.
Nature Genetics|July 21, 2022
Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosisRicardo Moreno Traspas, Tze Shin Teoh, Pui-Mun Wong, et al.
Pageof 7