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Scientific Reports|December 24, 2025
Transcriptomic signatures in brain and blood related to cognitive and psychiatric phenotypes of Prader-Willi syndromeShokouh Shahrokhi, Emma K Baker, Michael See, et al.Human Genetics|March 2, 2011
Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delayRachel D Burnside, Romela Pasion, Fady M Mikhail, et al.The Journal of Clinical Endocrinology and Metabolism|January 13, 2023
Diazoxide Choline Extended-Release Tablet in People With Prader-Willi Syndrome: A Double-Blind, Placebo-Controlled TrialJennifer L Miller, Evelien Gevers, Nicola Bridges, et al.JAMA Network Open|January 4, 2022
Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic WorkflowDavid E Godler, Ling Ling, Dinusha Gamage, et al.American Journal of Medical Genetics. Part A|November 15, 2007
Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patientsRobert L Conway, Barry D Pressman, William B Dobyns, et al.Obesity (Silver Spring, Md.)|November 3, 2023
Diazoxide choline extended-release tablet in people with Prader-Willi syndrome: results from long-term open-label studyJennifer L Miller, Evelien Gevers, Nicola Bridges, et al.The Journal of Clinical Investigation|December 13, 2016
Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndromeLisa C Burnett, Charles A LeDuc, Carlos R Sulsona, et al.Journal of Clinical Medicine|October 13, 2021
Hypogonadism in Adult Males with Prader-Willi Syndrome-Clinical Recommendations Based on a Dutch Cohort Study, Review of the Literature and an International Expert Panel DiscussionKarlijn Pellikaan, Yassine Ben Brahim, Anna G W Rosenberg, et al.Diabetes, Obesity & Metabolism|May 31, 2017
Effects of MetAP2 inhibition on hyperphagia and body weight in Prader-Willi syndrome: A randomized, double-blind, placebo-controlled trialShawn E McCandless, Jack A Yanovski, Jennifer Miller, et al.Pediatric Neurology|August 13, 2021
Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental SyndromesOlivia J Veatch, Beth A Malow, Hye-Seung Lee, et al.Pageof 24