Search Results
Showing results 1 to 20 of 82.
Article
Two years of newborn screening for Duchenne Muscular Dystrophy as a part of the statewide Early Check research program in North Carolina
January 01, 2024
Article
Power analysis for idiographic (within-subject) clinical trials: Implications for treatments of rare conditions and precision medicine
December 01, 2023
Article
Age of diagnosis for children with chromosome 15q syndromes
November 07, 2023
Article
Insight and recommendations for fragile x-premutation-associated conditions from the fifth international conference on FMR1 premutation
September 21, 2023
Article
Adaptive skills of individuals with Angelman syndrome assessed using the vineland adaptive behavior scales, 2nd edition
August 15, 2023
Article
Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: A prospective, longitudinal, observational clinical study (FREESIAS)
July 26, 2023
Article
Effects of congenital Zika syndrome on feeding and growth: A longitudinal study
July 01, 2023
Article
Misunderstood terms and concepts identified through user testing of educational materials for fragile X premutation: "Not weak or fragile?"
May 26, 2023
Article
Pilot protocol for the parent and infant inter(X)action intervention (PIXI) feasibility study
May 04, 2023
Article
Research gaps in fragile x syndrome: An updated literature review to inform clinical and public health practice
January 01, 2023
Article
The International Fragile X Premutation Registry: Building a resource for research and clinical trial readiness
December 01, 2022
Article
A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome
March 01, 2022
Article
Outreach to new mothers through direct mail and email: Recruitment in the Early Check research study
May 01, 2021
Article
Emergence of developmental delay in infants and toddlers with an FMR1 mutation
May 01, 2021
Article
A voluntary statewide newborn screening pilot for spinal muscular atrophy: Results from early check
March 21, 2021
Article
Developmental skills of individuals with Angelman Syndrome assessed using the Bayley-III
January 30, 2021
Article
Preferences for accessing electronic health records for research purposes: Views of parents who have a child with a known or suspected genetic condition
December 01, 2020
Article
Introduction to special issue on outcome measures for IDD: Where we have been, where we are now, and where we are heading
November 01, 2020
Article
Comprehensive assessment of individuals with significant levels of intellectual disability: Challenges, strategies, and future directions
November 01, 2020
Article
Outcome measures for core symptoms of intellectual disability: State of the field
November 01, 2020