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Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes.
Beygo J, Buiting K, Ramsden SC, Ellis R, Clayton-Smith J, Kanber D. Beygo J, et al. Eur J Hum Genet. 2019 Sep;27(9):1326-1340. doi: 10.1038/s41431-019-0435-0. Epub 2019 Jun 24. Eur J Hum Genet. 2019. PMID: 31235867 Free PMC article.
This article is an update of the best practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes published in 2010 in BMC Medical Genetics [1]. ...
This article is an update of the best practice guidelines for the molecular analysis of Prader-Willi
Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes.
Ramsden SC, Clayton-Smith J, Birch R, Buiting K. Ramsden SC, et al. BMC Med Genet. 2010 May 11;11:70. doi: 10.1186/1471-2350-11-70. BMC Med Genet. 2010. PMID: 20459762 Free PMC article.
BACKGROUND: Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are clinically distinct neurodevelopmental genetic disorders that map to 15q11-q13. ...In considering test sensitivity, the possibility of differential diagnoses is discussed. CO …
BACKGROUND: Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are clinically distinct neurodevelopme …
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