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Christina Austin-Tse

Showing results (1-10 of 40) with videos related to

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Methods in Enzymology|March 26, 2013
Zebrafish ciliaIain Drummond, Christina Austin-Tse
Cilia|March 24, 2018
Assaying sensory ciliopathies using calcium biosensor expression in zebrafish ciliated olfactory neuronsJudith G M Bergboer, Cameron Wyatt, Christina Austin-Tse, et al.
Journal of Pediatric Neurology : JPN|March 14, 2024
DNM1L variant presenting as adolescent-onset sensory neuronopathy, spasticity, dystonia, and ataxiaAlexander S Wang, Gabrielle Lemire, Grace E VanNoy, et al.
Journal of Cell Science|June 22, 2021
Genetic compensation for cilia defects in cep290 mutants by upregulation of cilia-associated small GTPasesMagdalena Cardenas-Rodriguez, Christina Austin-Tse, Judith G M Bergboer, et al.
Med (New York, N.Y.)|May 19, 2022
JAK inhibition in a patient with a STAT1 gain-of-function variant reveals STAT1 dysregulation as a common feature of aplastic anemiaJacob M Rosenberg, Joshua M Peters, Travis Hughes, et al.
Iscience|June 13, 2024
<i>De novo</i> <i>TLK1</i> and <i>MDM1</i> mutations in a patient with a neurodevelopmental disorder and immunodeficiencyMarina Villamor-Payà, María Sanchiz-Calvo, Jordann Smak, et al.
Medrxiv : the Preprint Server for Health Sciences|September 4, 2023
Identification of a <i>de novo</i> mutation in <i>TLK1</i> associated with a neurodevelopmental disorder and immunodeficiencyMarina Villamor-Payà, María Sanchiz-Calvo, Jordann Smak, et al.
Medrxiv : the Preprint Server for Health Sciences|September 4, 2024
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detectionShloka Negi, Sarah L Stenton, Seth I Berger, et al.
American Journal of Human Genetics|January 25, 2025
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detectionShloka Negi, Sarah L Stenton, Seth I Berger, et al.
Annals of Clinical and Translational Neurology|February 4, 2024
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathySandra Donkervoort, Payam Mohassel, Melanie O'Leary, et al.
Pageof 4

Showing results (1-10 of 40) with videos related to

Sort By:
Pageof 4
Methods in Enzymology|March 26, 2013
Zebrafish ciliaIain Drummond, Christina Austin-Tse
Cilia|March 24, 2018
Assaying sensory ciliopathies using calcium biosensor expression in zebrafish ciliated olfactory neuronsJudith G M Bergboer, Cameron Wyatt, Christina Austin-Tse, et al.
Journal of Pediatric Neurology : JPN|March 14, 2024
DNM1L variant presenting as adolescent-onset sensory neuronopathy, spasticity, dystonia, and ataxiaAlexander S Wang, Gabrielle Lemire, Grace E VanNoy, et al.
Journal of Cell Science|June 22, 2021
Genetic compensation for cilia defects in cep290 mutants by upregulation of cilia-associated small GTPasesMagdalena Cardenas-Rodriguez, Christina Austin-Tse, Judith G M Bergboer, et al.
Med (New York, N.Y.)|May 19, 2022
JAK inhibition in a patient with a STAT1 gain-of-function variant reveals STAT1 dysregulation as a common feature of aplastic anemiaJacob M Rosenberg, Joshua M Peters, Travis Hughes, et al.
Iscience|June 13, 2024
<i>De novo</i> <i>TLK1</i> and <i>MDM1</i> mutations in a patient with a neurodevelopmental disorder and immunodeficiencyMarina Villamor-Payà, María Sanchiz-Calvo, Jordann Smak, et al.
Medrxiv : the Preprint Server for Health Sciences|September 4, 2023
Identification of a <i>de novo</i> mutation in <i>TLK1</i> associated with a neurodevelopmental disorder and immunodeficiencyMarina Villamor-Payà, María Sanchiz-Calvo, Jordann Smak, et al.
Medrxiv : the Preprint Server for Health Sciences|September 4, 2024
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detectionShloka Negi, Sarah L Stenton, Seth I Berger, et al.
American Journal of Human Genetics|January 25, 2025
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detectionShloka Negi, Sarah L Stenton, Seth I Berger, et al.
Annals of Clinical and Translational Neurology|February 4, 2024
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathySandra Donkervoort, Payam Mohassel, Melanie O'Leary, et al.
Pageof 4