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Plos One
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March 12, 2010
Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype
Stephen 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 C1
Forbes D Porter, Derek M Alexander, Orsolya K Albert, et al.
Genes
|
September 23, 2022
Observable Symptoms of Anxiety in Individuals with Fragile X Syndrome: Parent and Caregiver Perspectives
Reymundo Lozano, Talia Thompson, Jayne Dixon-Weber, et al.
Pediatric Neurology
|
November 26, 2022
DDX3X Syndrome: Summary of Findings and Recommendations for Evaluation and Care
Tess Levy, Paige M Siper, Bonnie Lerman, et al.
Medical Engineering & Physics
|
May 19, 2004
Multispectral classification techniques for terahertz pulsed imaging: an example in histopathology
Elizabeth Berry, James W Handley, Anthony J Fitzgerald, et al.
Cerebellum (London, England)
|
July 4, 2016
Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series
Sarah 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-Cyclodextrin
Elizabeth Berry-Kravis, Jamie Chin, Anne Hoffmann, et al.
Journal of Neuropathology and Experimental Neurology
|
July 4, 2024
Accumulation of TMEM106B C-terminal fragments in Niemann-Pick type C disease
Ruth D Azaria, Sean P Ferris, Randy S Tashjian, et al.
Plos One
|
July 27, 2019
Language processing skills linked to FMR1 variation: A study of gaze-language coordination during rapid automatized naming among women with the FMR1 premutation
Kritika Nayar, Walker McKinney, Abigail L Hogan, et al.
Journal of Proteome Research
|
August 14, 2020
Optimization of Protocols for Detection of De Novo Protein Synthesis in Whole Blood Samples via Azide-Alkyne Cycloaddition
Heather L Bowling, Amanda Kasper, Chhaya Patole, et al.
Page
of 32
Search research articles
Search
Showing results (181-190 of 312) with videos related to
Sort By:
Page
of 32
Plos One
|
March 12, 2010
Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype
Stephen 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 C1
Forbes D Porter, Derek M Alexander, Orsolya K Albert, et al.
Genes
|
September 23, 2022
Observable Symptoms of Anxiety in Individuals with Fragile X Syndrome: Parent and Caregiver Perspectives
Reymundo Lozano, Talia Thompson, Jayne Dixon-Weber, et al.
Pediatric Neurology
|
November 26, 2022
DDX3X Syndrome: Summary of Findings and Recommendations for Evaluation and Care
Tess Levy, Paige M Siper, Bonnie Lerman, et al.
Medical Engineering & Physics
|
May 19, 2004
Multispectral classification techniques for terahertz pulsed imaging: an example in histopathology
Elizabeth Berry, James W Handley, Anthony J Fitzgerald, et al.
Cerebellum (London, England)
|
July 4, 2016
Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series
Sarah 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-Cyclodextrin
Elizabeth Berry-Kravis, Jamie Chin, Anne Hoffmann, et al.
Journal of Neuropathology and Experimental Neurology
|
July 4, 2024
Accumulation of TMEM106B C-terminal fragments in Niemann-Pick type C disease
Ruth D Azaria, Sean P Ferris, Randy S Tashjian, et al.
Plos One
|
July 27, 2019
Language processing skills linked to FMR1 variation: A study of gaze-language coordination during rapid automatized naming among women with the FMR1 premutation
Kritika Nayar, Walker McKinney, Abigail L Hogan, et al.
Journal of Proteome Research
|
August 14, 2020
Optimization of Protocols for Detection of De Novo Protein Synthesis in Whole Blood Samples via Azide-Alkyne Cycloaddition
Heather L Bowling, Amanda Kasper, Chhaya Patole, et al.
Page
of 32