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Search Results

Showing results 1 to 20 of 89.

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