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Kristi J Jones

Showing results (31-40 of 47) with videos related to

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Muscle & Nerve|July 22, 2014
Ataluren treatment of patients with nonsense mutation dystrophinopathyKatharine Bushby, Richard Finkel, Brenda Wong, et al.
Journal of Comparative Effectiveness Research|August 28, 2020
Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophyCraig Campbell, Richard J Barohn, Enrico Bertini, et al.
Neurology. Genetics|May 12, 2021
WGS and RNA Studies Diagnose Noncoding <i>DMD</i> Variants in Males With High Creatine KinaseLeigh B Waddell, Samantha J Bryen, Beryl B Cummings, et al.
Annals of Neurology|February 12, 2021
Assessing Dysferlinopathy Patients Over Three Years With a New Motor ScaleMarni B Jacobs, Meredoith K James, Linda P Lowes, et al.
Gastroenterology|December 31, 2022
Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair DeficiencyRichard Gallon, Rachel Phelps, Christine Hayes, et al.
Frontiers in Neurology|April 1, 2022
Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis ApproachAnna G Mayhew, Meredith K James, Ursula Moore, et al.
European Journal of Human Genetics : EJHG|February 25, 2010
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patientsKristien P Hoornaert, Inge Vereecke, Chantal Dewinter, et al.
Annals of Neurology|January 24, 2025
Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease SpectrumSandra Coppens, Nicolas Deconinck, Patricia Sullivan, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|May 9, 2018
Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trialsJordi Diaz-Manera, Roberto Fernandez-Torron, Jaume LLauger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 31, 2021
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomaliesGabriel C Dworschak, Jaya Punetha, Jeshurun C Kalanithy, et al.
Pageof 5

Showing results (31-40 of 47) with videos related to

Sort By:
Pageof 5
Muscle & Nerve|July 22, 2014
Ataluren treatment of patients with nonsense mutation dystrophinopathyKatharine Bushby, Richard Finkel, Brenda Wong, et al.
Journal of Comparative Effectiveness Research|August 28, 2020
Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophyCraig Campbell, Richard J Barohn, Enrico Bertini, et al.
Neurology. Genetics|May 12, 2021
WGS and RNA Studies Diagnose Noncoding <i>DMD</i> Variants in Males With High Creatine KinaseLeigh B Waddell, Samantha J Bryen, Beryl B Cummings, et al.
Annals of Neurology|February 12, 2021
Assessing Dysferlinopathy Patients Over Three Years With a New Motor ScaleMarni B Jacobs, Meredoith K James, Linda P Lowes, et al.
Gastroenterology|December 31, 2022
Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair DeficiencyRichard Gallon, Rachel Phelps, Christine Hayes, et al.
Frontiers in Neurology|April 1, 2022
Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis ApproachAnna G Mayhew, Meredith K James, Ursula Moore, et al.
European Journal of Human Genetics : EJHG|February 25, 2010
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patientsKristien P Hoornaert, Inge Vereecke, Chantal Dewinter, et al.
Annals of Neurology|January 24, 2025
Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease SpectrumSandra Coppens, Nicolas Deconinck, Patricia Sullivan, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|May 9, 2018
Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trialsJordi Diaz-Manera, Roberto Fernandez-Torron, Jaume LLauger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 31, 2021
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomaliesGabriel C Dworschak, Jaya Punetha, Jeshurun C Kalanithy, et al.
Pageof 5