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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