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Multisite Semiautomated Clinical Data Repository for Duplication 15q Syndrome: Study Protocol and Early Uses
BACKGROUND: Chromosome 15q11.2-q13.1 duplication syndrome (Dup15q syndrome) is a rare disorder caused by duplications of chromosome 15q11.2-q13.1, resulting in a wide range of developmental disabilities in affected individuals. The Dup15q Alliance is an organization that provides family support and...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
JMIR Publications
2017
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5666222/ https://www.ncbi.nlm.nih.gov/pubmed/29046268 http://dx.doi.org/10.2196/resprot.7989 |