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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer International Publishing
2019
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| Materias: | |
| 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 |