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Journal of Neurodevelopmental Disorders
|
May 10, 2024
Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome
Tess Levy, Jacob Gluckman, Paige M Siper, et al.
Molecular Genetics & Genomic Medicine
|
July 19, 2022
Descriptive analysis of seizures and comorbidities associated with fragile X syndrome
Igor Albizua, Krista Charen, Lisa Shubeck, et al.
Molecular Genetics and Metabolism
|
December 1, 2020
Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1
Rohini Sidhu, Pamela Kell, Dennis J Dietzen, et al.
Pediatric Neurology
|
July 21, 2020
Intracerebroventricular Cerliponase Alfa for Neuronal Ceroid Lipofuscinosis Type 2 Disease: Clinical Practice Considerations From US Clinics
Emily de Los Reyes, Lenora Lehwald, Erika F Augustine, et al.
Journal of Inherited Metabolic Disease
|
March 10, 2025
Elevated Cerebrospinal Fluid Total Tau in Niemann-Pick Disease Type C1: Correlation With Clinical Severity and Response to Therapeutic Interventions
Niamh X Cawley, Ruyu Zhou, Nicole M Farhat, et al.
American Journal on Intellectual and Developmental Disabilities
|
August 26, 2025
Which Score for What? Operationalizing Standardized Cognitive Test Performance for the Assessment of Change
Cristan Farmer, Audrey Thurm, Tanvi Das, et al.
Molecular Genetics and Metabolism
|
February 9, 2020
Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease
Rohini Sidhu, Pamela Kell, Dennis J Dietzen, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
May 19, 2022
Gene-based therapeutics for rare genetic neurodevelopmental psychiatric disorders
Beverly L Davidson, Guangping Gao, Elizabeth Berry-Kravis, et al.
Plos One
|
April 27, 2012
Routine multiplex mutational profiling of melanomas enables enrollment in genotype-driven therapeutic trials
Christine M Lovly, Kimberly Brown Dahlman, Laurel E Fohn, et al.
American Journal on Intellectual and Developmental Disabilities
|
August 26, 2025
Genetic Subtypes of Phelan-McDermid Syndrome Exhibit Similar Rates of Change Despite Differences in Level of Impairment in Developmental Constructs
Tess Levy, Cristan Farmer, Siddharth Srivastava, et al.
Page
of 32
Search research articles
Search
Showing results (271-280 of 312) with videos related to
Sort By:
Page
of 32
Journal of Neurodevelopmental Disorders
|
May 10, 2024
Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome
Tess Levy, Jacob Gluckman, Paige M Siper, et al.
Molecular Genetics & Genomic Medicine
|
July 19, 2022
Descriptive analysis of seizures and comorbidities associated with fragile X syndrome
Igor Albizua, Krista Charen, Lisa Shubeck, et al.
Molecular Genetics and Metabolism
|
December 1, 2020
Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1
Rohini Sidhu, Pamela Kell, Dennis J Dietzen, et al.
Pediatric Neurology
|
July 21, 2020
Intracerebroventricular Cerliponase Alfa for Neuronal Ceroid Lipofuscinosis Type 2 Disease: Clinical Practice Considerations From US Clinics
Emily de Los Reyes, Lenora Lehwald, Erika F Augustine, et al.
Journal of Inherited Metabolic Disease
|
March 10, 2025
Elevated Cerebrospinal Fluid Total Tau in Niemann-Pick Disease Type C1: Correlation With Clinical Severity and Response to Therapeutic Interventions
Niamh X Cawley, Ruyu Zhou, Nicole M Farhat, et al.
American Journal on Intellectual and Developmental Disabilities
|
August 26, 2025
Which Score for What? Operationalizing Standardized Cognitive Test Performance for the Assessment of Change
Cristan Farmer, Audrey Thurm, Tanvi Das, et al.
Molecular Genetics and Metabolism
|
February 9, 2020
Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease
Rohini Sidhu, Pamela Kell, Dennis J Dietzen, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
May 19, 2022
Gene-based therapeutics for rare genetic neurodevelopmental psychiatric disorders
Beverly L Davidson, Guangping Gao, Elizabeth Berry-Kravis, et al.
Plos One
|
April 27, 2012
Routine multiplex mutational profiling of melanomas enables enrollment in genotype-driven therapeutic trials
Christine M Lovly, Kimberly Brown Dahlman, Laurel E Fohn, et al.
American Journal on Intellectual and Developmental Disabilities
|
August 26, 2025
Genetic Subtypes of Phelan-McDermid Syndrome Exhibit Similar Rates of Change Despite Differences in Level of Impairment in Developmental Constructs
Tess Levy, Cristan Farmer, Siddharth Srivastava, et al.
Page
of 32