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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Public Health Genomics Branch
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Rare Diseases
Last data update: May 03, 2024
. (Total: 63769 Documents since 2012)
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Records 1 - 14 (of 14 Records)
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Telehealth Training in Naturalistic Communication Intervention for Mothers of Children with Angelman Syndrome.
Rispoli Mandy et al. Advances in neurodevelopmental disorders 2022 1-18
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Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow.
Godler David E et al. JAMA network open 2022 5(1) e2141911
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Clinical Utility of Methylation-Specific Multiplex Ligation-Dependent Probe Amplification for the Diagnosis of Prader-Willi Syndrome and Angelman Syndrome.
Kim Boram et al. Annals of laboratory medicine 2021 42(1) 79-88
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Genetic diagnoses in pediatric patients with epilepsy and comorbid intellectual disability.
Yang Mei et al. Epilepsy research 2021 Jan 170106552
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State of the Art of Genetic Testing for Patients With Autism: A Practical Guide for Clinicians.
Kreiman Bracha L et al. Seminars in pediatric neurology 2020 Jul 34100804
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Parent perceptions, beliefs, and fears around genetic treatments and cures for children with Angelman syndrome.
Adams Dawn et al. American journal of medical genetics. Part A 2020 May
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Angelman Syndrome: a journey through the brain.
Maranga Carina et al. The FEBS journal 2020 Feb
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Clinical epigenetics: a primer for the practitioner.
Aygun Deniz et al. Developmental medicine and child neurology 2019 Nov
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One Scientist's Quest to Bring DNA Sequencing to Every Sick Kid
SE Richards, WIRED, August 2019
A Review of the Genomic Analysis of Children Presenting with Developmental Delay/Intellectual Disability and Associated Dysmorphic Features.
Vickers Ramiah R et al. Cureus 2019 Jan 11(1) e3873
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Genetic testing for Prader-Willi syndrome and Angelman syndrome in the clinical practice of Guangdong Province, China.
Liu Chang et al. Molecular cytogenetics 2019 127
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A Conceptual Model of Angelman Syndrome and Review of Relevant Clinical Outcomes Assessments (COAs).
Grieco Joseph C et al. The patient 2018 Jul
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Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory.
Petersen Andrea K et al. American journal of obstetrics and gynecology 2017 Oct
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Clinical utility gene card for: Angelman Syndrome.
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 03, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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