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Elizabeth Berry-Kravis

Showing results (141-150 of 265) with videos related to

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Journal of Neurodevelopmental Disorders|April 4, 2020
Correction to: Expressive language sampling as a source of outcome measures for treatment studies in fragile X syndrome: feasibility, practice effects, test-retest reliability, and construct validityLeonard Abbeduto, Elizabeth Berry-Kravis, Audra Sterling, et al.
Genes|September 23, 2022
Observable Symptoms of Anxiety in Individuals with Fragile X Syndrome: Parent and Caregiver PerspectivesReymundo Lozano, Talia Thompson, Jayne Dixon-Weber, et al.
Pediatric Neurology|November 26, 2022
DDX3X Syndrome: Summary of Findings and Recommendations for Evaluation and CareTess Levy, Paige M Siper, Bonnie Lerman, et al.
The Biochemical Journal|June 2, 2010
Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndromeCatherine Ross-Inta, Alicja Omanska-Klusek, Sarah Wong, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 5, 2022
Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1Neena Agrawal, Nicole Y Farhat, Ninet Sinaii, et al.
The Journal of Molecular Diagnostics : JMD|May 18, 2013
Development of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testingLisa Kalman, Jack Tarleton, Monica Hitch, et al.
Plos One|March 12, 2010
Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotypeStephen C Collins, Brad Coffee, Paul J Benke, et al.
Molecular Genetics and Metabolism|November 19, 2025
Utility of 24(S)-hydroxycholesterol as a proximal biomarker to monitor long-term intrathecal adrabetadex therapy in individuals with Niemann-Pick disease, type C1Forbes D Porter, Derek M Alexander, Orsolya K Albert, et al.
Cerebellum (London, England)|July 4, 2016
Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case SeriesSarah M Debrey, Maureen A Leehey, Olga Klepitskaya, et al.
Pediatric Neurology|February 13, 2018
Long-Term Treatment of Niemann-Pick Type C1 Disease With Intrathecal 2-Hydroxypropyl-β-CyclodextrinElizabeth Berry-Kravis, Jamie Chin, Anne Hoffmann, et al.
Pageof 27

Showing results (141-150 of 265) with videos related to

Sort By:
Pageof 27
Journal of Neurodevelopmental Disorders|April 4, 2020
Correction to: Expressive language sampling as a source of outcome measures for treatment studies in fragile X syndrome: feasibility, practice effects, test-retest reliability, and construct validityLeonard Abbeduto, Elizabeth Berry-Kravis, Audra Sterling, et al.
Genes|September 23, 2022
Observable Symptoms of Anxiety in Individuals with Fragile X Syndrome: Parent and Caregiver PerspectivesReymundo Lozano, Talia Thompson, Jayne Dixon-Weber, et al.
Pediatric Neurology|November 26, 2022
DDX3X Syndrome: Summary of Findings and Recommendations for Evaluation and CareTess Levy, Paige M Siper, Bonnie Lerman, et al.
The Biochemical Journal|June 2, 2010
Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndromeCatherine Ross-Inta, Alicja Omanska-Klusek, Sarah Wong, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 5, 2022
Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1Neena Agrawal, Nicole Y Farhat, Ninet Sinaii, et al.
The Journal of Molecular Diagnostics : JMD|May 18, 2013
Development of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testingLisa Kalman, Jack Tarleton, Monica Hitch, et al.
Plos One|March 12, 2010
Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotypeStephen C Collins, Brad Coffee, Paul J Benke, et al.
Molecular Genetics and Metabolism|November 19, 2025
Utility of 24(S)-hydroxycholesterol as a proximal biomarker to monitor long-term intrathecal adrabetadex therapy in individuals with Niemann-Pick disease, type C1Forbes D Porter, Derek M Alexander, Orsolya K Albert, et al.
Cerebellum (London, England)|July 4, 2016
Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case SeriesSarah M Debrey, Maureen A Leehey, Olga Klepitskaya, et al.
Pediatric Neurology|February 13, 2018
Long-Term Treatment of Niemann-Pick Type C1 Disease With Intrathecal 2-Hydroxypropyl-β-CyclodextrinElizabeth Berry-Kravis, Jamie Chin, Anne Hoffmann, et al.
Pageof 27