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Uncovering the phenotypic consequences of multi-locus imprinting disturbances using genome-wide methylation analysis in genomic imprinting disorders
published 18 Aug 2023
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Experiencing illness as a crisis by the caregivers of individuals with Prader-Willi Syndrome
published 01 Sep 2022
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Strabismus surgery in Angelman syndrome: More than ocular alignment
published 13 Nov 2020
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Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes
published 17 Aug 2020
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An Angelman syndrome substitution in the HECT E3 ubiquitin ligase C-terminal Lobe of E6AP affects protein stability and activity
published 08 Jul 2020
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A MAGEL2-deubiquitinase complex modulates the ubiquitination of circadian rhythm protein CRY1
published 21 Apr 2020
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Transcutaneous vagus nerve stimulation (t-VNS): A novel effective treatment for temper outbursts in adults with Prader-Willi Syndrome indicated by results from a non-blind study
published 03 Dec 2019
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Profiles and trajectories of impaired social cognition in people with Prader-Willi syndrome
published 17 Oct 2019
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A randomized pilot efficacy and safety trial of diazoxide choline controlled-release in patients with Prader-Willi syndrome
published 23 Sep 2019
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Imprinting methylation in SNRPN and MEST1 in adult blood predicts cognitive ability
published 01 Feb 2019
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Parent of origin gene expression in a founder population identifies two new candidate imprinted genes at known imprinted regions
published 11 Sep 2018
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High levels of caregiver burden in Prader-Willi syndrome
published 26 Mar 2018
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AZP-531, an unacylated ghrelin analog, improves food-related behavior in patients with Prader-Willi syndrome: A randomized placebo-controlled trial
published 10 Jan 2018
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