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Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes

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]. The update takes into account developments in terms of techniques, differential diagnoses and (especially) reporting standards. I...

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Библиографические подробности
Опубликовано в: :Eur J Hum Genet
Главные авторы: Beygo, Jasmin, Buiting, Karin, Ramsden, Simon C., Ellis, Rachael, Clayton-Smith, Jill, Kanber, Deniz
Формат: Artigo
Язык:Inglês
Опубликовано: Springer International Publishing 2019
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6777528/
https://ncbi.nlm.nih.gov/pubmed/31235867
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0435-0
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