Last Updated: 09/26/2026
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Found 43 publications
Development of at-home video recordings for functional skill assessment in Angelman Syndrome: a pilot study.
Journal: Journal of neurodevelopmental disorders
Published: August 19, 2025
Hyperphagia in rare melanocortin-4 receptor pathway diseases: therapeutic options and assessing treatment response.
Journal: Reviews in endocrine & metabolic disorders
Published: June 17, 2025
Development of the Angelman syndrome video assessment: quantifying meaningful change.
Journal: Journal of neurodevelopmental disorders
Published: January 27, 2025
International Expert Opinion on Standard of Care for Patients With Schinzel-Giedion Syndrome: A Modified Delphi Study.
Journal: American journal of medical genetics. Part A
Published: November 11, 2024
Feeding tube use and complications in Prader-Willi syndrome: Data from the Global Prader-Willi Syndrome Registry.
Journal: American journal of medical genetics. Part A
Published: September 29, 2023
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.
Journal: American journal of human genetics
Published: September 23, 2023
Prader-Willi syndrome: an update.
Journal: Current opinion in pulmonary medicine
Published: September 13, 2023
Qualitative Insights into Key Angelman Syndrome Motor Related Concepts Reported by Caregivers-A Thematic Analysis of Semi-Structured Interviews.
Journal: Children (Basel, Switzerland)
Published: July 26, 2023
A novel remote monitoring device recapitulates sleep patterns in angelman syndrome.
Journal: Sleep medicine
Published: July 10, 2023
Five siblings expand the spectrum of GPC6-related skeletal dysplasia.
Journal: American journal of medical genetics. Part A
Published: April 28, 2023
Last Updated: 09/26/2026