Search Results
Showing results 1 to 20 of 87.
Article
A systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early check implementation
October 04, 2024
Article
Adaptive skills of individuals with Angelman syndrome assessed using the vineland adaptive behavior scales, 2nd edition
October 01, 2024
Article
Experiences of Spanish-speaking families with a remote neurodevelopmental assessment
September 18, 2024
Article
Feeding practices and weight status of children with congenital Zika syndrome: A longitudinal study in Brazil
September 01, 2024
Article
Developmental milestones and daily living skills in individuals with Angelman syndrome
June 15, 2024
Article
Specificity of early childhood hyperphagia profiles in neurogenetic conditions
May 01, 2024
Article
Linking Angelman and dup15q data for expanded research (LADDER) database: A model for advancing research, clinical guidance, and therapeutic development for rare conditions
May 01, 2024
Article
Misunderstood terms and concepts identified through user testing of educational materials for fragile X premutation: "Not weak or fragile?"
April 01, 2024
Article
The multiple odysseys in research and clinical care for neurogenetic conditions
March 01, 2024
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
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
Pilot protocol for the parent and infant inter(X)action intervention (PIXI) feasibility study
May 04, 2023
Article
Developmental skills of individuals with Angelman Syndrome assessed using the Bayley-III
February 01, 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