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Children (Basel, Switzerland)|September 28, 2023
Qualitative Insights into Key Angelman Syndrome Motor Related Concepts Reported by Caregivers-A Thematic Analysis of Semi-Structured InterviewsMiranda Rogers, Stéphane Motola, Yacine Bechichi, et al.
Reviews in Endocrine & Metabolic Disorders|June 25, 2025
Hyperphagia in rare melanocortin-4 receptor pathway diseases: therapeutic options and assessing treatment responseJesús Argente, Karine Clément, Jessica Duis, et al.
American Journal of Medical Genetics. Part A|February 2, 2024
Feeding tube use and complications in Prader-Willi syndrome: Data from the Global Prader-Willi Syndrome RegistrySani M Roy, Deborah Rafferty, Amy Trejo, et al.
The Journal of Nutrition|September 12, 2021
Nutritional Formulation for Patients with Angelman Syndrome: A Randomized, Double-Blind, Placebo-Controlled Study of Exogenous KetonesRobert P Carson, Donna L Herber, Zhaoxing Pan, et al.
American Journal of Medical Genetics. Part A|June 24, 2023
Five siblings expand the spectrum of GPC6-related skeletal dysplasiaMolly M Crenshaw, Mariana L Meyers, Kathleen Brown, et al.
Journal of Neurodevelopmental Disorders|June 21, 2021
Behavioral features in Prader-Willi syndrome (PWS): consensus paper from the International PWS Clinical Trial ConsortiumLauren Schwartz, Assumpta Caixàs, Anastasia Dimitropoulos, et al.
Molecular Genetics & Genomic Medicine|January 31, 2019
A multidisciplinary approach to the clinical management of Prader-Willi syndromeJessica Duis, Pieter J van Wattum, Ann Scheimann, et al.
Journal of Clinical Sleep Medicine : JCSM : Official Publication of the American Academy of Sleep Medicine|February 17, 2022
Diagnosis and management of sleep disorders in Prader-Willi syndromeJessica Duis, Lara C Pullen, Maria Picone, et al.
Annals of Neurology|July 28, 2016
KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunctionJessica Duis, Shannon Dean, Carolyn Applegate, et al.
HGG Advances|November 21, 2024
Germline de novo alterations of RUNX1T1 in individuals with neurodevelopmental and congenital anomaliesErfan Aref-Eshghi, Katherine J Anderson, Lauren Boulay, et al.
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