An evidence-based approach to establish the functional and clinical significance of CNVs in intellectual and developmental disabilities

PURPOSE: Copy number variants (CNVs) have emerged as a major cause of human disease such as autism and intellectual disabilities. Because CNVs are common in normal individuals, determining the functional and clinical significance of rare CNVs in patients remains challenging. The adoption of whole-ge...

وصف كامل

محفوظ في:
التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: Kaminsky, Erin B., Kaul, Vineith, Paschall, Justin, Church, Deanna M., Bunke, Brian, Kunig, Dawn, Moreno-De-Luca, Daniel, Moreno-De-Luca, Andres, Mulle, Jennifer G., Warren, Stephen T., Richard, Gabriele, Compton, John G., Fuller, Amy E., Gliem, Troy J., Huang, Shuwen, Collinson, Morag N., Beal, Sarah J., Ackley, Todd, Pickering, Diane L., Golden, Denae M., Aston, Emily, Whitby, Heidi, Shetty, Shashirekha, Rossi, Michael R., Rudd, M. Katharine, South, Sarah T., Brothman, Arthur R., Sanger, Warren G., Iyer, Ramaswamy K., Crolla, John A., Thorland, Erik C., Aradhya, Swaroop, Ledbetter, David H., Martin, Christa L.
التنسيق: Artigo
اللغة:Inglês
منشور في: 2011
الموضوعات:
Article
الوصول للمادة أونلاين:https://ncbi.nlm.nih.gov/pmc/articles/PMC3661946/
https://ncbi.nlm.nih.gov/pubmed/21844811
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/GIM.0b013e31822c79f9
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