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Journal of Inherited Metabolic Disease
|
August 15, 2025
Biomarker Validation in NPC1: Foundations for Clinical Trials and Regulatory Alignment
Krista Casazza, Stephanie M Cologna, Elizabeth Berry-Kravis, et al.
Journal of Neurodevelopmental Disorders
|
March 27, 2026
Electroretinography biomarkers indicate disrupted visual processing in Fragile X syndrome
Qianyi Pu, Naomi Bennett, Tejas C Sekhar, et al.
The Journal of Pediatrics
|
March 12, 2014
Climbing the branches of a family tree: diagnosis of fragile X syndrome
Jeannie Visootsak, Heather Hipp, Heather Clark, et al.
Brain Sciences
|
April 23, 2020
Delineating Repetitive Behavior Profiles across the Lifespan in Fragile X Syndrome
Debra L Reisinger, Rebecca C Shaffer, Nicole Tartaglia, et al.
Brain Sciences
|
January 26, 2019
Voice of People with Fragile X Syndrome and Their Families: Reports from a Survey on Treatment Priorities
Jayne Dixon Weber, Elizabeth Smith, Elizabeth Berry-Kravis, et al.
Frontiers in Genetics
|
November 5, 2014
New observations in the fragile X-associated tremor/ataxia syndrome (FXTAS) phenotype
Avram Fraint, Padmaja Vittal, Aimee Szewka, et al.
Journal of Neurodevelopmental Disorders
|
October 23, 2015
Improving IQ measurement in intellectual disabilities using true deviation from population norms
Stephanie M Sansone, Andrea Schneider, Erika Bickel, et al.
American Journal of Medical Genetics. Part A
|
November 27, 2014
Cholesterol levels in fragile X syndrome
Elizabeth Berry-Kravis, Rebecca Levin, Haroon Shah, et al.
Journal of Child and Adolescent Psychopharmacology
|
November 24, 2021
Psychotropic Drug Treatment Patterns in Persons with Fragile X Syndrome
Kelli C Dominick, Howard F Andrews, Walter E Kaufmann, et al.
Journal of Developmental and Behavioral Pediatrics : JDBP
|
November 9, 2011
Medication utilization for targeted symptoms in children and adults with fragile X syndrome: US survey
Donald B Bailey, Melissa Raspa, Ellen Bishop, et al.
Page
of 27
Search research articles
Search
Showing results (41-50 of 265) with videos related to
Sort By:
Page
of 27
Journal of Inherited Metabolic Disease
|
August 15, 2025
Biomarker Validation in NPC1: Foundations for Clinical Trials and Regulatory Alignment
Krista Casazza, Stephanie M Cologna, Elizabeth Berry-Kravis, et al.
Journal of Neurodevelopmental Disorders
|
March 27, 2026
Electroretinography biomarkers indicate disrupted visual processing in Fragile X syndrome
Qianyi Pu, Naomi Bennett, Tejas C Sekhar, et al.
The Journal of Pediatrics
|
March 12, 2014
Climbing the branches of a family tree: diagnosis of fragile X syndrome
Jeannie Visootsak, Heather Hipp, Heather Clark, et al.
Brain Sciences
|
April 23, 2020
Delineating Repetitive Behavior Profiles across the Lifespan in Fragile X Syndrome
Debra L Reisinger, Rebecca C Shaffer, Nicole Tartaglia, et al.
Brain Sciences
|
January 26, 2019
Voice of People with Fragile X Syndrome and Their Families: Reports from a Survey on Treatment Priorities
Jayne Dixon Weber, Elizabeth Smith, Elizabeth Berry-Kravis, et al.
Frontiers in Genetics
|
November 5, 2014
New observations in the fragile X-associated tremor/ataxia syndrome (FXTAS) phenotype
Avram Fraint, Padmaja Vittal, Aimee Szewka, et al.
Journal of Neurodevelopmental Disorders
|
October 23, 2015
Improving IQ measurement in intellectual disabilities using true deviation from population norms
Stephanie M Sansone, Andrea Schneider, Erika Bickel, et al.
American Journal of Medical Genetics. Part A
|
November 27, 2014
Cholesterol levels in fragile X syndrome
Elizabeth Berry-Kravis, Rebecca Levin, Haroon Shah, et al.
Journal of Child and Adolescent Psychopharmacology
|
November 24, 2021
Psychotropic Drug Treatment Patterns in Persons with Fragile X Syndrome
Kelli C Dominick, Howard F Andrews, Walter E Kaufmann, et al.
Journal of Developmental and Behavioral Pediatrics : JDBP
|
November 9, 2011
Medication utilization for targeted symptoms in children and adults with fragile X syndrome: US survey
Donald B Bailey, Melissa Raspa, Ellen Bishop, et al.
Page
of 27