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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Detalles Bibliográficos
Autores principales: Beygo, Jasmin, Buiting, Karin, Ramsden, Simon C., Ellis, Rachael, Clayton-Smith, Jill, Kanber, Deniz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2019
Materias:
Policy
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777528/
https://www.ncbi.nlm.nih.gov/pubmed/31235867
http://dx.doi.org/10.1038/s41431-019-0435-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777528/
https://www.ncbi.nlm.nih.gov/pubmed/31235867
http://dx.doi.org/10.1038/s41431-019-0435-0

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