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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...

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Detalles Bibliográficos
Autores principales: Ajayi, Oluwaseun Jessica, Smith, Ebony Jeannae, Viangteeravat, Teeradache, Huang, Eunice Y, Nagisetty, Naga Satya V Rao, Urraca, Nora, Lusk, Laina, Finucane, Brenda, Arkilo, Dimitrios, Young, Jennifer, Jeste, Shafali, Thibert, Ronald, Reiter, Lawrence T
Formato: Online Artículo Texto
Lenguaje:English
Publicado: JMIR Publications 2017
Materias:
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